Name: rs3057329
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs3057329

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:38041428-38041443 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(T)₈ / del(T)₅ / delTTT / delTT…
del(T)₈ / del(T)₅ / delTTT / delTT / delT / dupT / dupTT / dupTTT / insTTTG(T)₂₀ / dup(T)₄ / ins(T)₄(GTT)₂TTTTTTTTTTTTTTTTTT / ins(T)₄G(T)₁₉ / ins(T)₄G(T)₂₀ / ins(T)₄G(T)₂₂ / dup(T)₅ / ins(T)₅G(T)₂₀ / dup(T)₆ / ins(T)₆C(T)₁₂ATTTG(T)₁₉ / ins(T)₆G(T)₂₀ / ins(T)₆G(T)₂₁ / ins(T)₆G(T)₂₂ / dup(T)₇ / ins(T)₇G(T)₁₉ / ins(T)₇G(T)₂₀ / ins(T)₇G(T)₂₂ / dup(T)₈ / dup(T)₉ / ins(T)₉C(T)₃₅ / ins(T)₉G(T)₂₁ / ins(T)₉G(T)₂₂ / dup(T)₁₀ / dup(T)₁₁ / ins(T)₁₇ / ins(T)₁₉A(T)₂₃ / ins(T)₂₁G(T)₂₀ / ins(T)₂₃G(T)₂₀ / ins(T)₃₈
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₈=0.000004 (1/264690, TOPMED)
dupTTT=0.1376 (865/6286, ALFA)
(T)₁₆=0.4201 (2104/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RMDN2 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	6286	TTTTTTTTTTTTTTTT=0.7464	TTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0334, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.1376, TTTTTTTTTTTTTTTTTTTT=0.0360, TTTTTTTTTTTTTTTTTTTTT=0.0447, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0011, TTTTTTTTTTTTTTTTTTTTTT=0.0008, TTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.809337	0.073754	0.116909	32
European	Sub	5948	TTTTTTTTTTTTTTTT=0.7323	TTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0353, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.1453, TTTTTTTTTTTTTTTTTTTT=0.0380, TTTTTTTTTTTTTTTTTTTTT=0.0471, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0012, TTTTTTTTTTTTTTTTTTTTTT=0.0008, TTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.796304	0.078958	0.124738	32
African	Sub	220	TTTTTTTTTTTTTTTT=1.000	TTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	4	TTTTTTTTTTTTTTTT=1.0	TTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
African American	Sub	216	TTTTTTTTTTTTTTTT=1.000	TTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	0	TTTTTTTTTTTTTTTT=0	TTTTTTTT=0, TTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
East Asian	Sub	0	TTTTTTTTTTTTTTTT=0	TTTTTTTT=0, TTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Other Asian	Sub	0	TTTTTTTTTTTTTTTT=0	TTTTTTTT=0, TTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 1	Sub	10	TTTTTTTTTTTTTTTT=1.0	TTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	34	TTTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	6	TTTTTTTTTTTTTTTT=1.0	TTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other	Sub	68	TTTTTTTTTTTTTTTT=0.97	TTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.01, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.01, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00	0.969697	0.0	0.030303	0

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	(T)₁₆=0.999996	del(T)₈=0.000004
Allele Frequency Aggregator	Total	Global	6286	(T)₁₆=0.7464	del(T)₈=0.0000, del(T)₅=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0334, dupTT=0.0000, dupTTT=0.1376, dup(T)₄=0.0360, dup(T)₅=0.0447, dup(T)₆=0.0008, dup(T)₇=0.0000, ins(T)₃₈=0.0011
Allele Frequency Aggregator	European	Sub	5948	(T)₁₆=0.7323	del(T)₈=0.0000, del(T)₅=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0353, dupTT=0.0000, dupTTT=0.1453, dup(T)₄=0.0380, dup(T)₅=0.0471, dup(T)₆=0.0008, dup(T)₇=0.0000, ins(T)₃₈=0.0012
Allele Frequency Aggregator	African	Sub	220	(T)₁₆=1.000	del(T)₈=0.000, del(T)₅=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000, dup(T)₇=0.000, ins(T)₃₈=0.000
Allele Frequency Aggregator	Other	Sub	68	(T)₁₆=0.97	del(T)₈=0.00, del(T)₅=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.01, dup(T)₄=0.00, dup(T)₅=0.01, dup(T)₆=0.00, dup(T)₇=0.00, ins(T)₃₈=0.00
Allele Frequency Aggregator	Latin American 2	Sub	34	(T)₁₆=1.00	del(T)₈=0.00, del(T)₅=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00, ins(T)₃₈=0.00
Allele Frequency Aggregator	Latin American 1	Sub	10	(T)₁₆=1.0	del(T)₈=0.0, del(T)₅=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)₄=0.0, dup(T)₅=0.0, dup(T)₆=0.0, dup(T)₇=0.0, ins(T)₃₈=0.0
Allele Frequency Aggregator	South Asian	Sub	6	(T)₁₆=1.0	del(T)₈=0.0, del(T)₅=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)₄=0.0, dup(T)₅=0.0, dup(T)₆=0.0, dup(T)₇=0.0, ins(T)₃₈=0.0
Allele Frequency Aggregator	Asian	Sub	0	(T)₁₆=0	del(T)₈=0, del(T)₅=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0, dupTTT=0, dup(T)₄=0, dup(T)₅=0, dup(T)₆=0, dup(T)₇=0, ins(T)₃₈=0
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupTTT=0.5799
1000Genomes	African	Sub	1322	- No frequency provided	dupTTT=0.4554
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupTTT=0.6825
1000Genomes	Europe	Sub	1006	- No frequency provided	dupTTT=0.4821
1000Genomes	South Asian	Sub	978	- No frequency provided	dupTTT=0.728
1000Genomes	American	Sub	694	- No frequency provided	dupTTT=0.601

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 2	NC_000002.12:g.38041436_38041443del
GRCh38.p14 chr 2	NC_000002.12:g.38041439_38041443del
GRCh38.p14 chr 2	NC_000002.12:g.38041441_38041443del
GRCh38.p14 chr 2	NC_000002.12:g.38041442_38041443del
GRCh38.p14 chr 2	NC_000002.12:g.38041443del
GRCh38.p14 chr 2	NC_000002.12:g.38041443dup
GRCh38.p14 chr 2	NC_000002.12:g.38041442_38041443dup
GRCh38.p14 chr 2	NC_000002.12:g.38041441_38041443dup
GRCh38.p14 chr 2	NC_000002.12:g.38041428_38041443T[19]GTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 2	NC_000002.12:g.38041440_38041443dup
GRCh38.p14 chr 2	NC_000002.12:g.38041428_38041443T[20]GTT[2]T[18]
GRCh38.p14 chr 2	NC_000002.12:g.38041428_38041443T[20]GTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 2	NC_000002.12:g.38041428_38041443T[20]GTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 2	NC_000002.12:g.38041428_38041443T[20]GTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 2	NC_000002.12:g.38041439_38041443dup
GRCh38.p14 chr 2	NC_000002.12:g.38041428_38041443T[21]GTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 2	NC_000002.12:g.38041438_38041443dup
GRCh38.p14 chr 2	NC_000002.12:g.38041428_38041443T[22]CTTTTTTTTTTTTATTTGTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 2	NC_000002.12:g.38041428_38041443T[22]GTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 2	NC_000002.12:g.38041428_38041443T[22]GTTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 2	NC_000002.12:g.38041428_38041443T[22]GTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 2	NC_000002.12:g.38041437_38041443dup
GRCh38.p14 chr 2	NC_000002.12:g.38041428_38041443T[23]GTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 2	NC_000002.12:g.38041428_38041443T[23]GTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 2	NC_000002.12:g.38041428_38041443T[23]GTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 2	NC_000002.12:g.38041436_38041443dup
GRCh38.p14 chr 2	NC_000002.12:g.38041435_38041443dup
GRCh38.p14 chr 2	NC_000002.12:g.38041428_38041443T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 2	NC_000002.12:g.38041428_38041443T[25]GTTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 2	NC_000002.12:g.38041428_38041443T[25]GTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 2	NC_000002.12:g.38041434_38041443dup
GRCh38.p14 chr 2	NC_000002.12:g.38041433_38041443dup
GRCh38.p14 chr 2	NC_000002.12:g.38041443_38041444insTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 2	NC_000002.12:g.38041428_38041443T[35]ATTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 2	NC_000002.12:g.38041428_38041443T[37]GTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 2	NC_000002.12:g.38041428_38041443T[39]GTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 2	NC_000002.12:g.38041443_38041444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 2	NC_000002.11:g.38268579_38268586del
GRCh37.p13 chr 2	NC_000002.11:g.38268582_38268586del
GRCh37.p13 chr 2	NC_000002.11:g.38268584_38268586del
GRCh37.p13 chr 2	NC_000002.11:g.38268585_38268586del
GRCh37.p13 chr 2	NC_000002.11:g.38268586del
GRCh37.p13 chr 2	NC_000002.11:g.38268586dup
GRCh37.p13 chr 2	NC_000002.11:g.38268585_38268586dup
GRCh37.p13 chr 2	NC_000002.11:g.38268584_38268586dup
GRCh37.p13 chr 2	NC_000002.11:g.38268571_38268586T[19]GTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 2	NC_000002.11:g.38268583_38268586dup
GRCh37.p13 chr 2	NC_000002.11:g.38268571_38268586T[20]GTT[2]T[18]
GRCh37.p13 chr 2	NC_000002.11:g.38268571_38268586T[20]GTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 2	NC_000002.11:g.38268571_38268586T[20]GTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 2	NC_000002.11:g.38268571_38268586T[20]GTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 2	NC_000002.11:g.38268582_38268586dup
GRCh37.p13 chr 2	NC_000002.11:g.38268571_38268586T[21]GTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 2	NC_000002.11:g.38268581_38268586dup
GRCh37.p13 chr 2	NC_000002.11:g.38268571_38268586T[22]CTTTTTTTTTTTTATTTGTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 2	NC_000002.11:g.38268571_38268586T[22]GTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 2	NC_000002.11:g.38268571_38268586T[22]GTTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 2	NC_000002.11:g.38268571_38268586T[22]GTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 2	NC_000002.11:g.38268580_38268586dup
GRCh37.p13 chr 2	NC_000002.11:g.38268571_38268586T[23]GTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 2	NC_000002.11:g.38268571_38268586T[23]GTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 2	NC_000002.11:g.38268571_38268586T[23]GTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 2	NC_000002.11:g.38268579_38268586dup
GRCh37.p13 chr 2	NC_000002.11:g.38268578_38268586dup
GRCh37.p13 chr 2	NC_000002.11:g.38268571_38268586T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 2	NC_000002.11:g.38268571_38268586T[25]GTTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 2	NC_000002.11:g.38268571_38268586T[25]GTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 2	NC_000002.11:g.38268577_38268586dup
GRCh37.p13 chr 2	NC_000002.11:g.38268576_38268586dup
GRCh37.p13 chr 2	NC_000002.11:g.38268586_38268587insTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 2	NC_000002.11:g.38268571_38268586T[35]ATTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 2	NC_000002.11:g.38268571_38268586T[37]GTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 2	NC_000002.11:g.38268571_38268586T[39]GTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 2	NC_000002.11:g.38268586_38268587insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: RMDN2, regulator of microtubule dynamics 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RMDN2 transcript variant 6	NM_001322212.2:c.1180-255… NM_001322212.2:c.1180-25546_1180-25539del	N/A	Intron Variant
RMDN2 transcript variant 1	NM_144713.5:c.1714-25546_… NM_144713.5:c.1714-25546_1714-25539del	N/A	Intron Variant
RMDN2 transcript variant 2	NM_001170791.3:c.	N/A	Genic Downstream Transcript Variant
RMDN2 transcript variant 3	NM_001170792.3:c.	N/A	Genic Downstream Transcript Variant
RMDN2 transcript variant 4	NM_001170793.3:c.	N/A	Genic Downstream Transcript Variant
RMDN2 transcript variant 5	NM_001322211.2:c.	N/A	Genic Downstream Transcript Variant
RMDN2 transcript variant X1	XM_011532614.4:c.1714-133… XM_011532614.4:c.1714-13304_1714-13297del	N/A	Intron Variant
RMDN2 transcript variant X2	XM_011532615.4:c.27+2357… XM_011532615.4:c.27+23576_*27+23583del	N/A	Intron Variant
RMDN2 transcript variant X5	XM_011532616.3:c.1180-133… XM_011532616.3:c.1180-13304_1180-13297del	N/A	Intron Variant
RMDN2 transcript variant X10	XM_047443519.1:c.1180-255… XM_047443519.1:c.1180-25546_1180-25539del	N/A	Intron Variant
RMDN2 transcript variant X12	XM_047443521.1:c.745-2554… XM_047443521.1:c.745-25546_745-25539del	N/A	Intron Variant
RMDN2 transcript variant X3	XM_017003474.2:c.	N/A	Genic Downstream Transcript Variant
RMDN2 transcript variant X6	XM_017003476.3:c.	N/A	Genic Downstream Transcript Variant
RMDN2 transcript variant X7	XM_017003477.3:c.	N/A	Genic Downstream Transcript Variant
RMDN2 transcript variant X8	XM_017003478.2:c.	N/A	Genic Downstream Transcript Variant
RMDN2 transcript variant X9	XM_047443518.1:c.	N/A	Genic Downstream Transcript Variant
RMDN2 transcript variant X11	XM_047443520.1:c.	N/A	Genic Downstream Transcript Variant
RMDN2 transcript variant X4	XR_939668.4:n.	N/A	Genic Downstream Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(T)₁₆=	del(T)₈	del(T)₅	delTTT	delTT	delT	dupT	dupTT	dupTTT	insTTTG(T)₂₀	dup(T)₄	ins(T)₄(GTT)₂TTTTTTTTTTTTTTTTTT	ins(T)₄G(T)₁₉	ins(T)₄G(T)₂₀	ins(T)₄G(T)₂₂	dup(T)₅	ins(T)₅G(T)₂₀	dup(T)₆	ins(T)₆C(T)₁₂ATTTG(T)₁₉	ins(T)₆G(T)₂₀	ins(T)₆G(T)₂₁	ins(T)₆G(T)₂₂	dup(T)₇	ins(T)₇G(T)₁₉	ins(T)₇G(T)₂₀	ins(T)₇G(T)₂₂	dup(T)₈	dup(T)₉	ins(T)₉C(T)₃₅	ins(T)₉G(T)₂₁	ins(T)₉G(T)₂₂	dup(T)₁₀	dup(T)₁₁	ins(T)₁₇	ins(T)₁₉A(T)₂₃	ins(T)₂₁G(T)₂₀	ins(T)₂₃G(T)₂₀	ins(T)₃₈
GRCh38.p14 chr 2	NC_000002.12:g.38041428_38041443=	NC_000002.12:g.38041436_38041443del	NC_000002.12:g.38041439_38041443del	NC_000002.12:g.38041441_38041443del	NC_000002.12:g.38041442_38041443del	NC_000002.12:g.38041443del	NC_000002.12:g.38041443dup	NC_000002.12:g.38041442_38041443dup	NC_000002.12:g.38041441_38041443dup	NC_000002.12:g.38041428_38041443T[19]GTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.12:g.38041440_38041443dup	NC_000002.12:g.38041428_38041443T[20]GTT[2]T[18]	NC_000002.12:g.38041428_38041443T[20]GTTTTTTTTTTTTTTTTTTT[1]	NC_000002.12:g.38041428_38041443T[20]GTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.12:g.38041428_38041443T[20]GTTTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.12:g.38041439_38041443dup	NC_000002.12:g.38041428_38041443T[21]GTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.12:g.38041438_38041443dup	NC_000002.12:g.38041428_38041443T[22]CTTTTTTTTTTTTATTTGTTTTTTTTTTTTTTTTTTT[1]	NC_000002.12:g.38041428_38041443T[22]GTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.12:g.38041428_38041443T[22]GTTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.12:g.38041428_38041443T[22]GTTTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.12:g.38041437_38041443dup	NC_000002.12:g.38041428_38041443T[23]GTTTTTTTTTTTTTTTTTTT[1]	NC_000002.12:g.38041428_38041443T[23]GTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.12:g.38041428_38041443T[23]GTTTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.12:g.38041436_38041443dup	NC_000002.12:g.38041435_38041443dup	NC_000002.12:g.38041428_38041443T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.12:g.38041428_38041443T[25]GTTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.12:g.38041428_38041443T[25]GTTTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.12:g.38041434_38041443dup	NC_000002.12:g.38041433_38041443dup	NC_000002.12:g.38041443_38041444insTTTTTTTTTTTTTTTTT	NC_000002.12:g.38041428_38041443T[35]ATTTTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.12:g.38041428_38041443T[37]GTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.12:g.38041428_38041443T[39]GTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.12:g.38041443_38041444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 2	NC_000002.11:g.38268571_38268586=	NC_000002.11:g.38268579_38268586del	NC_000002.11:g.38268582_38268586del	NC_000002.11:g.38268584_38268586del	NC_000002.11:g.38268585_38268586del	NC_000002.11:g.38268586del	NC_000002.11:g.38268586dup	NC_000002.11:g.38268585_38268586dup	NC_000002.11:g.38268584_38268586dup	NC_000002.11:g.38268571_38268586T[19]GTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.11:g.38268583_38268586dup	NC_000002.11:g.38268571_38268586T[20]GTT[2]T[18]	NC_000002.11:g.38268571_38268586T[20]GTTTTTTTTTTTTTTTTTTT[1]	NC_000002.11:g.38268571_38268586T[20]GTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.11:g.38268571_38268586T[20]GTTTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.11:g.38268582_38268586dup	NC_000002.11:g.38268571_38268586T[21]GTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.11:g.38268581_38268586dup	NC_000002.11:g.38268571_38268586T[22]CTTTTTTTTTTTTATTTGTTTTTTTTTTTTTTTTTTT[1]	NC_000002.11:g.38268571_38268586T[22]GTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.11:g.38268571_38268586T[22]GTTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.11:g.38268571_38268586T[22]GTTTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.11:g.38268580_38268586dup	NC_000002.11:g.38268571_38268586T[23]GTTTTTTTTTTTTTTTTTTT[1]	NC_000002.11:g.38268571_38268586T[23]GTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.11:g.38268571_38268586T[23]GTTTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.11:g.38268579_38268586dup	NC_000002.11:g.38268578_38268586dup	NC_000002.11:g.38268571_38268586T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.11:g.38268571_38268586T[25]GTTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.11:g.38268571_38268586T[25]GTTTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.11:g.38268577_38268586dup	NC_000002.11:g.38268576_38268586dup	NC_000002.11:g.38268586_38268587insTTTTTTTTTTTTTTTTT	NC_000002.11:g.38268571_38268586T[35]ATTTTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.11:g.38268571_38268586T[37]GTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.11:g.38268571_38268586T[39]GTTTTTTTTTTTTTTTTTTTT[1]	NC_000002.11:g.38268586_38268587insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant 6	NM_001322212.2:c.1180-25554=	NM_001322212.2:c.1180-25546_1180-25539del	NM_001322212.2:c.1180-25543_1180-25539del	NM_001322212.2:c.1180-25541_1180-25539del	NM_001322212.2:c.1180-25540_1180-25539del	NM_001322212.2:c.1180-25539del	NM_001322212.2:c.1180-25539dup	NM_001322212.2:c.1180-25540_1180-25539dup	NM_001322212.2:c.1180-25541_1180-25539dup	NM_001322212.2:c.1180-25539_1180-25538insTTTGTTTTTTTTTTTTTTTTTTTT	NM_001322212.2:c.1180-25542_1180-25539dup	NM_001322212.2:c.1180-25539_1180-25538insTTTTGTTGTTTTTTTTTTTTTTTTTTTT	NM_001322212.2:c.1180-25539_1180-25538insTTTTGTTTTTTTTTTTTTTTTTTT	NM_001322212.2:c.1180-25539_1180-25538insTTTTGTTTTTTTTTTTTTTTTTTTT	NM_001322212.2:c.1180-25539_1180-25538insTTTTGTTTTTTTTTTTTTTTTTTTTTT	NM_001322212.2:c.1180-25543_1180-25539dup	NM_001322212.2:c.1180-25539_1180-25538insTTTTTGTTTTTTTTTTTTTTTTTTTT	NM_001322212.2:c.1180-25544_1180-25539dup	NM_001322212.2:c.1180-25539_1180-25538insTTTTTTCTTTTTTTTTTTTATTTGTTTTTTTTTTTTTTTTTTT	NM_001322212.2:c.1180-25539_1180-25538insTTTTTTGTTTTTTTTTTTTTTTTTTTT	NM_001322212.2:c.1180-25539_1180-25538insTTTTTTGTTTTTTTTTTTTTTTTTTTTT	NM_001322212.2:c.1180-25539_1180-25538insTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	NM_001322212.2:c.1180-25545_1180-25539dup	NM_001322212.2:c.1180-25539_1180-25538insTTTTTTTGTTTTTTTTTTTTTTTTTTT	NM_001322212.2:c.1180-25539_1180-25538insTTTTTTTGTTTTTTTTTTTTTTTTTTTT	NM_001322212.2:c.1180-25539_1180-25538insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	NM_001322212.2:c.1180-25546_1180-25539dup	NM_001322212.2:c.1180-25547_1180-25539dup	NM_001322212.2:c.1180-25539_1180-25538insTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001322212.2:c.1180-25539_1180-25538insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT	NM_001322212.2:c.1180-25539_1180-25538insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	NM_001322212.2:c.1180-25548_1180-25539dup	NM_001322212.2:c.1180-25549_1180-25539dup	NM_001322212.2:c.1180-25539_1180-25538insTTTTTTTTTTTTTTTTT	NM_001322212.2:c.1180-25539_1180-25538insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT	NM_001322212.2:c.1180-25539_1180-25538insTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	NM_001322212.2:c.1180-25539_1180-25538insTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	NM_001322212.2:c.1180-25539_1180-25538insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant 1	NM_144713.3:c.1714-25554=	NM_144713.3:c.1714-25546_1714-25539del	NM_144713.3:c.1714-25543_1714-25539del	NM_144713.3:c.1714-25541_1714-25539del	NM_144713.3:c.1714-25540_1714-25539del	NM_144713.3:c.1714-25539del	NM_144713.3:c.1714-25539dup	NM_144713.3:c.1714-25540_1714-25539dup	NM_144713.3:c.1714-25541_1714-25539dup	NM_144713.3:c.1714-25539_1714-25538insTTTGTTTTTTTTTTTTTTTTTTTT	NM_144713.3:c.1714-25542_1714-25539dup	NM_144713.3:c.1714-25539_1714-25538insTTTTGTTGTTTTTTTTTTTTTTTTTTTT	NM_144713.3:c.1714-25539_1714-25538insTTTTGTTTTTTTTTTTTTTTTTTT	NM_144713.3:c.1714-25539_1714-25538insTTTTGTTTTTTTTTTTTTTTTTTTT	NM_144713.3:c.1714-25539_1714-25538insTTTTGTTTTTTTTTTTTTTTTTTTTTT	NM_144713.3:c.1714-25543_1714-25539dup	NM_144713.3:c.1714-25539_1714-25538insTTTTTGTTTTTTTTTTTTTTTTTTTT	NM_144713.3:c.1714-25544_1714-25539dup	NM_144713.3:c.1714-25539_1714-25538insTTTTTTCTTTTTTTTTTTTATTTGTTTTTTTTTTTTTTTTTTT	NM_144713.3:c.1714-25539_1714-25538insTTTTTTGTTTTTTTTTTTTTTTTTTTT	NM_144713.3:c.1714-25539_1714-25538insTTTTTTGTTTTTTTTTTTTTTTTTTTTT	NM_144713.3:c.1714-25539_1714-25538insTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	NM_144713.3:c.1714-25545_1714-25539dup	NM_144713.3:c.1714-25539_1714-25538insTTTTTTTGTTTTTTTTTTTTTTTTTTT	NM_144713.3:c.1714-25539_1714-25538insTTTTTTTGTTTTTTTTTTTTTTTTTTTT	NM_144713.3:c.1714-25539_1714-25538insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	NM_144713.3:c.1714-25546_1714-25539dup	NM_144713.3:c.1714-25547_1714-25539dup	NM_144713.3:c.1714-25539_1714-25538insTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_144713.3:c.1714-25539_1714-25538insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT	NM_144713.3:c.1714-25539_1714-25538insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	NM_144713.3:c.1714-25548_1714-25539dup	NM_144713.3:c.1714-25549_1714-25539dup	NM_144713.3:c.1714-25539_1714-25538insTTTTTTTTTTTTTTTTT	NM_144713.3:c.1714-25539_1714-25538insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT	NM_144713.3:c.1714-25539_1714-25538insTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	NM_144713.3:c.1714-25539_1714-25538insTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	NM_144713.3:c.1714-25539_1714-25538insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant 1	NM_144713.5:c.1714-25554=	NM_144713.5:c.1714-25546_1714-25539del	NM_144713.5:c.1714-25543_1714-25539del	NM_144713.5:c.1714-25541_1714-25539del	NM_144713.5:c.1714-25540_1714-25539del	NM_144713.5:c.1714-25539del	NM_144713.5:c.1714-25539dup	NM_144713.5:c.1714-25540_1714-25539dup	NM_144713.5:c.1714-25541_1714-25539dup	NM_144713.5:c.1714-25539_1714-25538insTTTGTTTTTTTTTTTTTTTTTTTT	NM_144713.5:c.1714-25542_1714-25539dup	NM_144713.5:c.1714-25539_1714-25538insTTTTGTTGTTTTTTTTTTTTTTTTTTTT	NM_144713.5:c.1714-25539_1714-25538insTTTTGTTTTTTTTTTTTTTTTTTT	NM_144713.5:c.1714-25539_1714-25538insTTTTGTTTTTTTTTTTTTTTTTTTT	NM_144713.5:c.1714-25539_1714-25538insTTTTGTTTTTTTTTTTTTTTTTTTTTT	NM_144713.5:c.1714-25543_1714-25539dup	NM_144713.5:c.1714-25539_1714-25538insTTTTTGTTTTTTTTTTTTTTTTTTTT	NM_144713.5:c.1714-25544_1714-25539dup	NM_144713.5:c.1714-25539_1714-25538insTTTTTTCTTTTTTTTTTTTATTTGTTTTTTTTTTTTTTTTTTT	NM_144713.5:c.1714-25539_1714-25538insTTTTTTGTTTTTTTTTTTTTTTTTTTT	NM_144713.5:c.1714-25539_1714-25538insTTTTTTGTTTTTTTTTTTTTTTTTTTTT	NM_144713.5:c.1714-25539_1714-25538insTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	NM_144713.5:c.1714-25545_1714-25539dup	NM_144713.5:c.1714-25539_1714-25538insTTTTTTTGTTTTTTTTTTTTTTTTTTT	NM_144713.5:c.1714-25539_1714-25538insTTTTTTTGTTTTTTTTTTTTTTTTTTTT	NM_144713.5:c.1714-25539_1714-25538insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	NM_144713.5:c.1714-25546_1714-25539dup	NM_144713.5:c.1714-25547_1714-25539dup	NM_144713.5:c.1714-25539_1714-25538insTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_144713.5:c.1714-25539_1714-25538insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT	NM_144713.5:c.1714-25539_1714-25538insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	NM_144713.5:c.1714-25548_1714-25539dup	NM_144713.5:c.1714-25549_1714-25539dup	NM_144713.5:c.1714-25539_1714-25538insTTTTTTTTTTTTTTTTT	NM_144713.5:c.1714-25539_1714-25538insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT	NM_144713.5:c.1714-25539_1714-25538insTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	NM_144713.5:c.1714-25539_1714-25538insTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	NM_144713.5:c.1714-25539_1714-25538insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant X1	XM_011532614.4:c.1714-13312=	XM_011532614.4:c.1714-13304_1714-13297del	XM_011532614.4:c.1714-13301_1714-13297del	XM_011532614.4:c.1714-13299_1714-13297del	XM_011532614.4:c.1714-13298_1714-13297del	XM_011532614.4:c.1714-13297del	XM_011532614.4:c.1714-13297dup	XM_011532614.4:c.1714-13298_1714-13297dup	XM_011532614.4:c.1714-13299_1714-13297dup	XM_011532614.4:c.1714-13297_1714-13296insTTTGTTTTTTTTTTTTTTTTTTTT	XM_011532614.4:c.1714-13300_1714-13297dup	XM_011532614.4:c.1714-13297_1714-13296insTTTTGTTGTTTTTTTTTTTTTTTTTTTT	XM_011532614.4:c.1714-13297_1714-13296insTTTTGTTTTTTTTTTTTTTTTTTT	XM_011532614.4:c.1714-13297_1714-13296insTTTTGTTTTTTTTTTTTTTTTTTTT	XM_011532614.4:c.1714-13297_1714-13296insTTTTGTTTTTTTTTTTTTTTTTTTTTT	XM_011532614.4:c.1714-13301_1714-13297dup	XM_011532614.4:c.1714-13297_1714-13296insTTTTTGTTTTTTTTTTTTTTTTTTTT	XM_011532614.4:c.1714-13302_1714-13297dup	XM_011532614.4:c.1714-13297_1714-13296insTTTTTTCTTTTTTTTTTTTATTTGTTTTTTTTTTTTTTTTTTT	XM_011532614.4:c.1714-13297_1714-13296insTTTTTTGTTTTTTTTTTTTTTTTTTTT	XM_011532614.4:c.1714-13297_1714-13296insTTTTTTGTTTTTTTTTTTTTTTTTTTTT	XM_011532614.4:c.1714-13297_1714-13296insTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	XM_011532614.4:c.1714-13303_1714-13297dup	XM_011532614.4:c.1714-13297_1714-13296insTTTTTTTGTTTTTTTTTTTTTTTTTTT	XM_011532614.4:c.1714-13297_1714-13296insTTTTTTTGTTTTTTTTTTTTTTTTTTTT	XM_011532614.4:c.1714-13297_1714-13296insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	XM_011532614.4:c.1714-13304_1714-13297dup	XM_011532614.4:c.1714-13305_1714-13297dup	XM_011532614.4:c.1714-13297_1714-13296insTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011532614.4:c.1714-13297_1714-13296insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT	XM_011532614.4:c.1714-13297_1714-13296insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	XM_011532614.4:c.1714-13306_1714-13297dup	XM_011532614.4:c.1714-13307_1714-13297dup	XM_011532614.4:c.1714-13297_1714-13296insTTTTTTTTTTTTTTTTT	XM_011532614.4:c.1714-13297_1714-13296insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT	XM_011532614.4:c.1714-13297_1714-13296insTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	XM_011532614.4:c.1714-13297_1714-13296insTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	XM_011532614.4:c.1714-13297_1714-13296insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant X2	XM_011532615.4:c.*27+23568=	XM_011532615.4:c.27+23576_27+23583del	XM_011532615.4:c.27+23579_27+23583del	XM_011532615.4:c.27+23581_27+23583del	XM_011532615.4:c.27+23582_27+23583del	XM_011532615.4:c.*27+23583del	XM_011532615.4:c.*27+23583dup	XM_011532615.4:c.27+23582_27+23583dup	XM_011532615.4:c.27+23581_27+23583dup	XM_011532615.4:c.27+23583_27+23584insTTTGTTTTTTTTTTTTTTTTTTTT	XM_011532615.4:c.27+23580_27+23583dup	XM_011532615.4:c.27+23583_27+23584insTTTTGTTGTTTTTTTTTTTTTTTTTTTT	XM_011532615.4:c.27+23583_27+23584insTTTTGTTTTTTTTTTTTTTTTTTT	XM_011532615.4:c.27+23583_27+23584insTTTTGTTTTTTTTTTTTTTTTTTTT	XM_011532615.4:c.27+23583_27+23584insTTTTGTTTTTTTTTTTTTTTTTTTTTT	XM_011532615.4:c.27+23579_27+23583dup	XM_011532615.4:c.27+23583_27+23584insTTTTTGTTTTTTTTTTTTTTTTTTTT	XM_011532615.4:c.27+23578_27+23583dup	XM_011532615.4:c.27+23583_27+23584insTTTTTTCTTTTTTTTTTTTATTTGTTTTTTTTTTTTTTTTTTT	XM_011532615.4:c.27+23583_27+23584insTTTTTTGTTTTTTTTTTTTTTTTTTTT	XM_011532615.4:c.27+23583_27+23584insTTTTTTGTTTTTTTTTTTTTTTTTTTTT	XM_011532615.4:c.27+23583_27+23584insTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	XM_011532615.4:c.27+23577_27+23583dup	XM_011532615.4:c.27+23583_27+23584insTTTTTTTGTTTTTTTTTTTTTTTTTTT	XM_011532615.4:c.27+23583_27+23584insTTTTTTTGTTTTTTTTTTTTTTTTTTTT	XM_011532615.4:c.27+23583_27+23584insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	XM_011532615.4:c.27+23576_27+23583dup	XM_011532615.4:c.27+23575_27+23583dup	XM_011532615.4:c.27+23583_27+23584insTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011532615.4:c.27+23583_27+23584insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT	XM_011532615.4:c.27+23583_27+23584insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	XM_011532615.4:c.27+23574_27+23583dup	XM_011532615.4:c.27+23573_27+23583dup	XM_011532615.4:c.27+23583_27+23584insTTTTTTTTTTTTTTTTT	XM_011532615.4:c.27+23583_27+23584insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT	XM_011532615.4:c.27+23583_27+23584insTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	XM_011532615.4:c.27+23583_27+23584insTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	XM_011532615.4:c.27+23583_27+23584insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant X5	XM_011532616.3:c.1180-13312=	XM_011532616.3:c.1180-13304_1180-13297del	XM_011532616.3:c.1180-13301_1180-13297del	XM_011532616.3:c.1180-13299_1180-13297del	XM_011532616.3:c.1180-13298_1180-13297del	XM_011532616.3:c.1180-13297del	XM_011532616.3:c.1180-13297dup	XM_011532616.3:c.1180-13298_1180-13297dup	XM_011532616.3:c.1180-13299_1180-13297dup	XM_011532616.3:c.1180-13297_1180-13296insTTTGTTTTTTTTTTTTTTTTTTTT	XM_011532616.3:c.1180-13300_1180-13297dup	XM_011532616.3:c.1180-13297_1180-13296insTTTTGTTGTTTTTTTTTTTTTTTTTTTT	XM_011532616.3:c.1180-13297_1180-13296insTTTTGTTTTTTTTTTTTTTTTTTT	XM_011532616.3:c.1180-13297_1180-13296insTTTTGTTTTTTTTTTTTTTTTTTTT	XM_011532616.3:c.1180-13297_1180-13296insTTTTGTTTTTTTTTTTTTTTTTTTTTT	XM_011532616.3:c.1180-13301_1180-13297dup	XM_011532616.3:c.1180-13297_1180-13296insTTTTTGTTTTTTTTTTTTTTTTTTTT	XM_011532616.3:c.1180-13302_1180-13297dup	XM_011532616.3:c.1180-13297_1180-13296insTTTTTTCTTTTTTTTTTTTATTTGTTTTTTTTTTTTTTTTTTT	XM_011532616.3:c.1180-13297_1180-13296insTTTTTTGTTTTTTTTTTTTTTTTTTTT	XM_011532616.3:c.1180-13297_1180-13296insTTTTTTGTTTTTTTTTTTTTTTTTTTTT	XM_011532616.3:c.1180-13297_1180-13296insTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	XM_011532616.3:c.1180-13303_1180-13297dup	XM_011532616.3:c.1180-13297_1180-13296insTTTTTTTGTTTTTTTTTTTTTTTTTTT	XM_011532616.3:c.1180-13297_1180-13296insTTTTTTTGTTTTTTTTTTTTTTTTTTTT	XM_011532616.3:c.1180-13297_1180-13296insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	XM_011532616.3:c.1180-13304_1180-13297dup	XM_011532616.3:c.1180-13305_1180-13297dup	XM_011532616.3:c.1180-13297_1180-13296insTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011532616.3:c.1180-13297_1180-13296insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT	XM_011532616.3:c.1180-13297_1180-13296insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	XM_011532616.3:c.1180-13306_1180-13297dup	XM_011532616.3:c.1180-13307_1180-13297dup	XM_011532616.3:c.1180-13297_1180-13296insTTTTTTTTTTTTTTTTT	XM_011532616.3:c.1180-13297_1180-13296insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT	XM_011532616.3:c.1180-13297_1180-13296insTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	XM_011532616.3:c.1180-13297_1180-13296insTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	XM_011532616.3:c.1180-13297_1180-13296insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant X10	XM_047443519.1:c.1180-25554=	XM_047443519.1:c.1180-25546_1180-25539del	XM_047443519.1:c.1180-25543_1180-25539del	XM_047443519.1:c.1180-25541_1180-25539del	XM_047443519.1:c.1180-25540_1180-25539del	XM_047443519.1:c.1180-25539del	XM_047443519.1:c.1180-25539dup	XM_047443519.1:c.1180-25540_1180-25539dup	XM_047443519.1:c.1180-25541_1180-25539dup	XM_047443519.1:c.1180-25539_1180-25538insTTTGTTTTTTTTTTTTTTTTTTTT	XM_047443519.1:c.1180-25542_1180-25539dup	XM_047443519.1:c.1180-25539_1180-25538insTTTTGTTGTTTTTTTTTTTTTTTTTTTT	XM_047443519.1:c.1180-25539_1180-25538insTTTTGTTTTTTTTTTTTTTTTTTT	XM_047443519.1:c.1180-25539_1180-25538insTTTTGTTTTTTTTTTTTTTTTTTTT	XM_047443519.1:c.1180-25539_1180-25538insTTTTGTTTTTTTTTTTTTTTTTTTTTT	XM_047443519.1:c.1180-25543_1180-25539dup	XM_047443519.1:c.1180-25539_1180-25538insTTTTTGTTTTTTTTTTTTTTTTTTTT	XM_047443519.1:c.1180-25544_1180-25539dup	XM_047443519.1:c.1180-25539_1180-25538insTTTTTTCTTTTTTTTTTTTATTTGTTTTTTTTTTTTTTTTTTT	XM_047443519.1:c.1180-25539_1180-25538insTTTTTTGTTTTTTTTTTTTTTTTTTTT	XM_047443519.1:c.1180-25539_1180-25538insTTTTTTGTTTTTTTTTTTTTTTTTTTTT	XM_047443519.1:c.1180-25539_1180-25538insTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	XM_047443519.1:c.1180-25545_1180-25539dup	XM_047443519.1:c.1180-25539_1180-25538insTTTTTTTGTTTTTTTTTTTTTTTTTTT	XM_047443519.1:c.1180-25539_1180-25538insTTTTTTTGTTTTTTTTTTTTTTTTTTTT	XM_047443519.1:c.1180-25539_1180-25538insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	XM_047443519.1:c.1180-25546_1180-25539dup	XM_047443519.1:c.1180-25547_1180-25539dup	XM_047443519.1:c.1180-25539_1180-25538insTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047443519.1:c.1180-25539_1180-25538insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT	XM_047443519.1:c.1180-25539_1180-25538insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	XM_047443519.1:c.1180-25548_1180-25539dup	XM_047443519.1:c.1180-25549_1180-25539dup	XM_047443519.1:c.1180-25539_1180-25538insTTTTTTTTTTTTTTTTT	XM_047443519.1:c.1180-25539_1180-25538insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT	XM_047443519.1:c.1180-25539_1180-25538insTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	XM_047443519.1:c.1180-25539_1180-25538insTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	XM_047443519.1:c.1180-25539_1180-25538insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant X12	XM_047443521.1:c.745-25554=	XM_047443521.1:c.745-25546_745-25539del	XM_047443521.1:c.745-25543_745-25539del	XM_047443521.1:c.745-25541_745-25539del	XM_047443521.1:c.745-25540_745-25539del	XM_047443521.1:c.745-25539del	XM_047443521.1:c.745-25539dup	XM_047443521.1:c.745-25540_745-25539dup	XM_047443521.1:c.745-25541_745-25539dup	XM_047443521.1:c.745-25539_745-25538insTTTGTTTTTTTTTTTTTTTTTTTT	XM_047443521.1:c.745-25542_745-25539dup	XM_047443521.1:c.745-25539_745-25538insTTTTGTTGTTTTTTTTTTTTTTTTTTTT	XM_047443521.1:c.745-25539_745-25538insTTTTGTTTTTTTTTTTTTTTTTTT	XM_047443521.1:c.745-25539_745-25538insTTTTGTTTTTTTTTTTTTTTTTTTT	XM_047443521.1:c.745-25539_745-25538insTTTTGTTTTTTTTTTTTTTTTTTTTTT	XM_047443521.1:c.745-25543_745-25539dup	XM_047443521.1:c.745-25539_745-25538insTTTTTGTTTTTTTTTTTTTTTTTTTT	XM_047443521.1:c.745-25544_745-25539dup	XM_047443521.1:c.745-25539_745-25538insTTTTTTCTTTTTTTTTTTTATTTGTTTTTTTTTTTTTTTTTTT	XM_047443521.1:c.745-25539_745-25538insTTTTTTGTTTTTTTTTTTTTTTTTTTT	XM_047443521.1:c.745-25539_745-25538insTTTTTTGTTTTTTTTTTTTTTTTTTTTT	XM_047443521.1:c.745-25539_745-25538insTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	XM_047443521.1:c.745-25545_745-25539dup	XM_047443521.1:c.745-25539_745-25538insTTTTTTTGTTTTTTTTTTTTTTTTTTT	XM_047443521.1:c.745-25539_745-25538insTTTTTTTGTTTTTTTTTTTTTTTTTTTT	XM_047443521.1:c.745-25539_745-25538insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	XM_047443521.1:c.745-25546_745-25539dup	XM_047443521.1:c.745-25547_745-25539dup	XM_047443521.1:c.745-25539_745-25538insTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047443521.1:c.745-25539_745-25538insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT	XM_047443521.1:c.745-25539_745-25538insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	XM_047443521.1:c.745-25548_745-25539dup	XM_047443521.1:c.745-25549_745-25539dup	XM_047443521.1:c.745-25539_745-25538insTTTTTTTTTTTTTTTTT	XM_047443521.1:c.745-25539_745-25538insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT	XM_047443521.1:c.745-25539_745-25538insTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	XM_047443521.1:c.745-25539_745-25538insTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	XM_047443521.1:c.745-25539_745-25538insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

96 SubSNP, 54 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss4288610	Jan 05, 2002 (102)
2	HGSV	ss77960800	Dec 07, 2007 (129)
3	HGSV	ss81735322	Dec 15, 2007 (130)
4	HGSV	ss81749813	Dec 15, 2007 (130)
5	HGSV	ss81791436	Dec 15, 2007 (130)
6	HGSV	ss82693750	Dec 15, 2007 (130)
7	HGSV	ss82700014	Dec 15, 2007 (130)
8	HGSV	ss82720557	Dec 15, 2007 (130)
9	HGSV	ss83602812	Dec 15, 2007 (130)
10	BILGI_BIOE	ss666144922	Apr 25, 2013 (138)
11	1000GENOMES	ss1368178028	Aug 21, 2014 (142)
12	EVA_UK10K_ALSPAC	ss1702425357	Apr 01, 2015 (144)
13	EVA_UK10K_ALSPAC	ss1702425361	Apr 01, 2015 (144)
14	EVA_UK10K_TWINSUK	ss1702425420	Apr 01, 2015 (144)
15	EVA_UK10K_TWINSUK	ss1702425424	Apr 01, 2015 (144)
16	SWEGEN	ss2989310649	Nov 08, 2017 (151)
17	SWEGEN	ss2989310650	Nov 08, 2017 (151)
18	SWEGEN	ss2989310651	Nov 08, 2017 (151)
19	SWEGEN	ss2989310652	Nov 08, 2017 (151)
20	SWEGEN	ss2989310653	Nov 08, 2017 (151)
21	EVA_DECODE	ss3703652800	Jul 13, 2019 (153)
22	EVA_DECODE	ss3703652801	Jul 13, 2019 (153)
23	EVA_DECODE	ss3703652802	Jul 13, 2019 (153)
24	EVA_DECODE	ss3703652803	Jul 13, 2019 (153)
25	EVA_DECODE	ss3703652804	Jul 13, 2019 (153)
26	EVA_DECODE	ss3703652805	Jul 13, 2019 (153)
27	PACBIO	ss3783833756	Jul 13, 2019 (153)
28	PACBIO	ss3789426457	Jul 13, 2019 (153)
29	PACBIO	ss3789426458	Jul 13, 2019 (153)
30	PACBIO	ss3794299270	Jul 13, 2019 (153)
31	PACBIO	ss3794299271	Jul 13, 2019 (153)
32	KHV_HUMAN_GENOMES	ss3800986153	Jul 13, 2019 (153)
33	EVA	ss3826923734	Apr 25, 2020 (154)
34	GNOMAD	ss4039058670	Apr 26, 2021 (155)
35	GNOMAD	ss4039058671	Apr 26, 2021 (155)
36	GNOMAD	ss4039058672	Apr 26, 2021 (155)
37	GNOMAD	ss4039058673	Apr 26, 2021 (155)
38	GNOMAD	ss4039058674	Apr 26, 2021 (155)
39	GNOMAD	ss4039058675	Apr 26, 2021 (155)
40	GNOMAD	ss4039058676	Apr 26, 2021 (155)
41	GNOMAD	ss4039058677	Apr 26, 2021 (155)
42	GNOMAD	ss4039058678	Apr 26, 2021 (155)
43	GNOMAD	ss4039058679	Apr 26, 2021 (155)
44	GNOMAD	ss4039058680	Apr 26, 2021 (155)
45	GNOMAD	ss4039058681	Apr 26, 2021 (155)
46	GNOMAD	ss4039058682	Apr 26, 2021 (155)
47	GNOMAD	ss4039058683	Apr 26, 2021 (155)
48	GNOMAD	ss4039058684	Apr 26, 2021 (155)
49	GNOMAD	ss4039058685	Apr 26, 2021 (155)
50	GNOMAD	ss4039058686	Apr 26, 2021 (155)
51	GNOMAD	ss4039058687	Apr 26, 2021 (155)
52	GNOMAD	ss4039058688	Apr 26, 2021 (155)
53	GNOMAD	ss4039058689	Apr 26, 2021 (155)
54	GNOMAD	ss4039058690	Apr 26, 2021 (155)
55	GNOMAD	ss4039058691	Apr 26, 2021 (155)
56	GNOMAD	ss4039058692	Apr 26, 2021 (155)
57	GNOMAD	ss4039058693	Apr 26, 2021 (155)
58	GNOMAD	ss4039058694	Apr 26, 2021 (155)
59	GNOMAD	ss4039058695	Apr 26, 2021 (155)
60	GNOMAD	ss4039058696	Apr 26, 2021 (155)
61	GNOMAD	ss4039058697	Apr 26, 2021 (155)
62	GNOMAD	ss4039058698	Apr 26, 2021 (155)
63	GNOMAD	ss4039058699	Apr 26, 2021 (155)
64	GNOMAD	ss4039058700	Apr 26, 2021 (155)
65	GNOMAD	ss4039058701	Apr 26, 2021 (155)
66	GNOMAD	ss4039058703	Apr 26, 2021 (155)
67	GNOMAD	ss4039058704	Apr 26, 2021 (155)
68	GNOMAD	ss4039058705	Apr 26, 2021 (155)
69	GNOMAD	ss4039058706	Apr 26, 2021 (155)
70	TOPMED	ss4501244926	Apr 26, 2021 (155)
71	TOMMO_GENOMICS	ss5150791714	Apr 26, 2021 (155)
72	TOMMO_GENOMICS	ss5150791715	Apr 26, 2021 (155)
73	TOMMO_GENOMICS	ss5150791716	Apr 26, 2021 (155)
74	TOMMO_GENOMICS	ss5150791717	Apr 26, 2021 (155)
75	TOMMO_GENOMICS	ss5150791718	Apr 26, 2021 (155)
76	1000G_HIGH_COVERAGE	ss5247628779	Oct 13, 2022 (156)
77	1000G_HIGH_COVERAGE	ss5247628780	Oct 13, 2022 (156)
78	1000G_HIGH_COVERAGE	ss5247628781	Oct 13, 2022 (156)
79	1000G_HIGH_COVERAGE	ss5247628782	Oct 13, 2022 (156)
80	1000G_HIGH_COVERAGE	ss5247628783	Oct 13, 2022 (156)
81	1000G_HIGH_COVERAGE	ss5247628784	Oct 13, 2022 (156)
82	HUGCELL_USP	ss5447871377	Oct 13, 2022 (156)
83	HUGCELL_USP	ss5447871378	Oct 13, 2022 (156)
84	HUGCELL_USP	ss5447871379	Oct 13, 2022 (156)
85	HUGCELL_USP	ss5447871380	Oct 13, 2022 (156)
86	HUGCELL_USP	ss5447871381	Oct 13, 2022 (156)
87	TOMMO_GENOMICS	ss5679250645	Oct 13, 2022 (156)
88	TOMMO_GENOMICS	ss5679250646	Oct 13, 2022 (156)
89	TOMMO_GENOMICS	ss5679250647	Oct 13, 2022 (156)
90	TOMMO_GENOMICS	ss5679250648	Oct 13, 2022 (156)
91	TOMMO_GENOMICS	ss5679250649	Oct 13, 2022 (156)
92	TOMMO_GENOMICS	ss5679250650	Oct 13, 2022 (156)
93	EVA	ss5819934349	Oct 13, 2022 (156)
94	EVA	ss5819934350	Oct 13, 2022 (156)
95	EVA	ss5819934351	Oct 13, 2022 (156)
96	EVA	ss5819934352	Oct 13, 2022 (156)
97	1000Genomes	NC_000002.11 - 38268571	Oct 11, 2018 (152)
98	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 4255927 (NC_000002.11:38268570::TTT 1450/3854) Row 4255928 (NC_000002.11:38268570::TTTT 528/3854)	-	Oct 11, 2018 (152)
99	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 4255927 (NC_000002.11:38268570::TTT 1450/3854) Row 4255928 (NC_000002.11:38268570::TTTT 528/3854)	-	Oct 11, 2018 (152)
100	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
101	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
102	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
103	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
104	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
105	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
106	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
107	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
108	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
109	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
110	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
111	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
112	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
113	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
114	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
115	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
116	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
117	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
118	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
119	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
120	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
121	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
122	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
123	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
124	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
125	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
126	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
127	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
128	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
129	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
130	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
131	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
132	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
133	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
134	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
135	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54378612 (NC_000002.12:38041427::T 9318/110926) Row 54378613 (NC_000002.12:38041427::TT 2839/110980) Row 54378614 (NC_000002.12:38041427::TTT 34157/110640)...	-	Apr 26, 2021 (155)
136	8.3KJPN Submission ignored due to conflicting rows: Row 8761021 (NC_000002.11:38268570::TTTTT 9829/16204) Row 8761022 (NC_000002.11:38268570::TTT 1681/16204) Row 8761023 (NC_000002.11:38268570::TTTTTT 172/16204)...	-	Apr 26, 2021 (155)
137	8.3KJPN Submission ignored due to conflicting rows: Row 8761021 (NC_000002.11:38268570::TTTTT 9829/16204) Row 8761022 (NC_000002.11:38268570::TTT 1681/16204) Row 8761023 (NC_000002.11:38268570::TTTTTT 172/16204)...	-	Apr 26, 2021 (155)
138	8.3KJPN Submission ignored due to conflicting rows: Row 8761021 (NC_000002.11:38268570::TTTTT 9829/16204) Row 8761022 (NC_000002.11:38268570::TTT 1681/16204) Row 8761023 (NC_000002.11:38268570::TTTTTT 172/16204)...	-	Apr 26, 2021 (155)
139	8.3KJPN Submission ignored due to conflicting rows: Row 8761021 (NC_000002.11:38268570::TTTTT 9829/16204) Row 8761022 (NC_000002.11:38268570::TTT 1681/16204) Row 8761023 (NC_000002.11:38268570::TTTTTT 172/16204)...	-	Apr 26, 2021 (155)
140	8.3KJPN Submission ignored due to conflicting rows: Row 8761021 (NC_000002.11:38268570::TTTTT 9829/16204) Row 8761022 (NC_000002.11:38268570::TTT 1681/16204) Row 8761023 (NC_000002.11:38268570::TTTTTT 172/16204)...	-	Apr 26, 2021 (155)
141	14KJPN Submission ignored due to conflicting rows: Row 13087749 (NC_000002.12:38041427::TTT 2535/25530) Row 13087750 (NC_000002.12:38041427::TTTT 1929/25530) Row 13087751 (NC_000002.12:38041427::TTTTT 14217/25530)...	-	Oct 13, 2022 (156)
142	14KJPN Submission ignored due to conflicting rows: Row 13087749 (NC_000002.12:38041427::TTT 2535/25530) Row 13087750 (NC_000002.12:38041427::TTTT 1929/25530) Row 13087751 (NC_000002.12:38041427::TTTTT 14217/25530)...	-	Oct 13, 2022 (156)
143	14KJPN Submission ignored due to conflicting rows: Row 13087749 (NC_000002.12:38041427::TTT 2535/25530) Row 13087750 (NC_000002.12:38041427::TTTT 1929/25530) Row 13087751 (NC_000002.12:38041427::TTTTT 14217/25530)...	-	Oct 13, 2022 (156)
144	14KJPN Submission ignored due to conflicting rows: Row 13087749 (NC_000002.12:38041427::TTT 2535/25530) Row 13087750 (NC_000002.12:38041427::TTTT 1929/25530) Row 13087751 (NC_000002.12:38041427::TTTTT 14217/25530)...	-	Oct 13, 2022 (156)
145	14KJPN Submission ignored due to conflicting rows: Row 13087749 (NC_000002.12:38041427::TTT 2535/25530) Row 13087750 (NC_000002.12:38041427::TTTT 1929/25530) Row 13087751 (NC_000002.12:38041427::TTTTT 14217/25530)...	-	Oct 13, 2022 (156)
146	14KJPN Submission ignored due to conflicting rows: Row 13087749 (NC_000002.12:38041427::TTT 2535/25530) Row 13087750 (NC_000002.12:38041427::TTTT 1929/25530) Row 13087751 (NC_000002.12:38041427::TTTTT 14217/25530)...	-	Oct 13, 2022 (156)
147	TopMed	NC_000002.12 - 38041428	Apr 26, 2021 (155)
148	UK 10K study - Twins Submission ignored due to conflicting rows: Row 4255927 (NC_000002.11:38268570::TTT 1391/3708) Row 4255928 (NC_000002.11:38268570::TTTT 483/3708)	-	Oct 11, 2018 (152)
149	UK 10K study - Twins Submission ignored due to conflicting rows: Row 4255927 (NC_000002.11:38268570::TTT 1391/3708) Row 4255928 (NC_000002.11:38268570::TTTT 483/3708)	-	Oct 11, 2018 (152)
150	ALFA	NC_000002.12 - 38041428	Apr 26, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs59574346	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
305067805, ss4501244926	NC_000002.12:38041427:TTTTTTTT:	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTT	(self)
3500243754	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTT	(self)
ss4039058706	NC_000002.12:38041427:TTTTT:	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
3500243754	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4039058705	NC_000002.12:38041427:TTT:	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
3500243754	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4039058704	NC_000002.12:38041427:TT:	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
3500243754	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4039058703, ss5679250650	NC_000002.12:38041427:T:	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
3500243754	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss2989310649, ss3826923734, ss5150791718	NC_000002.11:38268570::T	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3703652800, ss4039058670, ss5247628783, ss5447871378, ss5679250648	NC_000002.12:38041427::T	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
3500243754	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss2989310653, ss5819934352	NC_000002.11:38268570::TT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3703652801, ss4039058671, ss5247628779, ss5447871381	NC_000002.12:38041427::TT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
3500243754	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
7662837, ss666144922, ss1368178028, ss1702425357, ss1702425420, ss2989310650, ss5150791715, ss5819934349	NC_000002.11:38268570::TTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3703652802, ss3800986153, ss4039058672, ss5247628780, ss5447871379, ss5679250645	NC_000002.12:38041427::TTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
3500243754	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss77960800, ss83602812	NT_022184.15:17090473::TTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4039058682	NC_000002.12:38041427::TTTTTTTTTTT… NC_000002.12:38041427::TTTTTTTTTTTTTTTTTTTGTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	(self)
ss1702425361, ss1702425424, ss2989310651, ss3789426457, ss3794299270, ss5150791717, ss5819934350	NC_000002.11:38268570::TTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3703652803, ss4039058673, ss5247628781, ss5447871377, ss5679250646	NC_000002.12:38041427::TTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
3500243754	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss81735322, ss81791436, ss82693750, ss82700014, ss82720557	NT_022184.15:17090473::TTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4039058683	NC_000002.12:38041427::TTTTTTTTTTT… NC_000002.12:38041427::TTTTTTTTTTTTTTTTTTTTGTTGTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTGTTGTTTTTTTTTTTTTTTTTTTT	(self)
ss4039058684	NC_000002.12:38041427::TTTTTTTTTTT… NC_000002.12:38041427::TTTTTTTTTTTTTTTTTTTTGTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT	(self)
ss4039058685	NC_000002.12:38041427::TTTTTTTTTTT… NC_000002.12:38041427::TTTTTTTTTTTTTTTTTTTTGTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	(self)
ss4039058686	NC_000002.12:38041427::TTTTTTTTTTT… NC_000002.12:38041427::TTTTTTTTTTTTTTTTTTTTGTTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	(self)
ss2989310652, ss3789426458, ss3794299271, ss5150791714, ss5819934351	NC_000002.11:38268570::TTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3703652804, ss4039058674, ss5247628782, ss5447871380, ss5679250647	NC_000002.12:38041427::TTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
3500243754	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4288610, ss81749813	NT_022184.15:17090473::TTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4039058687	NC_000002.12:38041427::TTTTTTTTTTT… NC_000002.12:38041427::TTTTTTTTTTTTTTTTTTTTTGTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	(self)
ss3783833756, ss5150791716	NC_000002.11:38268570::TTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4039058675, ss5247628784, ss5679250649	NC_000002.12:38041427::TTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
3500243754	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4039058688	NC_000002.12:38041427::TTTTTTTTTTT… NC_000002.12:38041427::TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTATTTGTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTATTTGTTTTTTTTTTTTTTTTTTT	(self)
ss4039058689	NC_000002.12:38041427::TTTTTTTTTTT… NC_000002.12:38041427::TTTTTTTTTTTTTTTTTTTTTTGTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	(self)
ss4039058690	NC_000002.12:38041427::TTTTTTTTTTT… NC_000002.12:38041427::TTTTTTTTTTTTTTTTTTTTTTGTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT	(self)
ss4039058691	NC_000002.12:38041427::TTTTTTTTTTT… NC_000002.12:38041427::TTTTTTTTTTTTTTTTTTTTTTGTTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4039058676	NC_000002.12:38041427::TTTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
3500243754	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4039058692	NC_000002.12:38041427::TTTTTTTTTTT… NC_000002.12:38041427::TTTTTTTTTTTTTTTTTTTTTTTGTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT	(self)
ss4039058693	NC_000002.12:38041427::TTTTTTTTTTT… NC_000002.12:38041427::TTTTTTTTTTTTTTTTTTTTTTTGTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	(self)
ss4039058694	NC_000002.12:38041427::TTTTTTTTTTT… NC_000002.12:38041427::TTTTTTTTTTTTTTTTTTTTTTTGTTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3703652805, ss4039058677	NC_000002.12:38041427::TTTTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4039058678	NC_000002.12:38041427::TTTTTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4039058695	NC_000002.12:38041427::TTTTTTTTTTT… NC_000002.12:38041427::TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4039058696	NC_000002.12:38041427::TTTTTTTTTTT… NC_000002.12:38041427::TTTTTTTTTTTTTTTTTTTTTTTTTGTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT	(self)
ss4039058697	NC_000002.12:38041427::TTTTTTTTTTT… NC_000002.12:38041427::TTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4039058679	NC_000002.12:38041427::TTTTTTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4039058680	NC_000002.12:38041427::TTTTTTTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4039058681	NC_000002.12:38041427::TTTTTTTTTTT… NC_000002.12:38041427::TTTTTTTTTTTTTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4039058698	NC_000002.12:38041427::TTTTTTTTTTT… NC_000002.12:38041427::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4039058699	NC_000002.12:38041427::TTTTTTTTTTT… NC_000002.12:38041427::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	(self)
ss4039058701	NC_000002.12:38041427::TTTTTTTTTTT… NC_000002.12:38041427::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	(self)
ss4039058700	NC_000002.12:38041427::TTTTTTTTTTT… NC_000002.12:38041427::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
3500243754	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss2395144013	NC_000002.11:38268570:T:	NC_000002.12:38041427:TTTTTTTTTTTT… NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs3057329

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs3057329