Name: rs398060100
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.

rs398060100

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:37965339-37965354 (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: delTT / delT / dupT / dupTT / ins(…
delTT / delT / dupT / dupTT / ins(T)₆A(T)₁₇ / ins(T)₂₆ / ins(T)₃₀A(T)₁₇ / ins(T)₃₇ / ins(T)₃₈ / ins(T)₃₉
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.00073 (11/15082, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RMDN2 : Intron Variant
RMDN2-AS1 : 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	HTRZ	HWEP
Total	Global	15082	TTTTTTTTTTTTTTTT=0.99854	TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00020, TTTTTTTTTTTTTTTTT=0.00073, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00027, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00013, TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT=0.00013, TTTTTTTTTTTTTTTTTT=0.00000	0.998539	0.001461	0
European	Sub	12018	TTTTTTTTTTTTTTTT=0.99817	TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00025, TTTTTTTTTTTTTTTTT=0.00092, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00033, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00017, TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT=0.00017, TTTTTTTTTTTTTTTTTT=0.00000	0.998166	0.001834	0
African	Sub	1736	TTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	N/A
African Others	Sub	56	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	N/A
African American	Sub	1680	TTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	N/A
Asian	Sub	94	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	N/A
East Asian	Sub	72	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	N/A
Other Asian	Sub	22	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	N/A
Latin American 1	Sub	132	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	N/A
Latin American 2	Sub	592	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	N/A
South Asian	Sub	94	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	N/A
Other	Sub	416	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	N/A

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
Allele Frequency Aggregator	Total	Global	15082	(T)₁₆=0.99854	delTT=0.00000, delT=0.00020, dupT=0.00073, dupTT=0.00000, ins(T)₆A(T)₁₇=0.00013, ins(T)₂₆=0.00027, ins(T)₃₈=0.00013
Allele Frequency Aggregator	European	Sub	12018	(T)₁₆=0.99817	delTT=0.00000, delT=0.00025, dupT=0.00092, dupTT=0.00000, ins(T)₆A(T)₁₇=0.00017, ins(T)₂₆=0.00033, ins(T)₃₈=0.00017
Allele Frequency Aggregator	African	Sub	1736	(T)₁₆=1.0000	delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, ins(T)₆A(T)₁₇=0.0000, ins(T)₂₆=0.0000, ins(T)₃₈=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	592	(T)₁₆=1.000	delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, ins(T)₆A(T)₁₇=0.000, ins(T)₂₆=0.000, ins(T)₃₈=0.000
Allele Frequency Aggregator	Other	Sub	416	(T)₁₆=1.000	delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, ins(T)₆A(T)₁₇=0.000, ins(T)₂₆=0.000, ins(T)₃₈=0.000
Allele Frequency Aggregator	Latin American 1	Sub	132	(T)₁₆=1.000	delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, ins(T)₆A(T)₁₇=0.000, ins(T)₂₆=0.000, ins(T)₃₈=0.000
Allele Frequency Aggregator	South Asian	Sub	94	(T)₁₆=1.00	delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, ins(T)₆A(T)₁₇=0.00, ins(T)₂₆=0.00, ins(T)₃₈=0.00
Allele Frequency Aggregator	Asian	Sub	94	(T)₁₆=1.00	delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, ins(T)₆A(T)₁₇=0.00, ins(T)₂₆=0.00, ins(T)₃₈=0.00

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.37965353_37965354del
GRCh38.p14 chr 2	NC_000002.12:g.37965354del
GRCh38.p14 chr 2	NC_000002.12:g.37965354dup
GRCh38.p14 chr 2	NC_000002.12:g.37965353_37965354dup
GRCh38.p14 chr 2	NC_000002.12:g.37965339_37965354T[22]ATTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 2	NC_000002.12:g.37965354_37965355insTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 2	NC_000002.12:g.37965339_37965354T[46]ATTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 2	NC_000002.12:g.37965354_37965355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 2	NC_000002.12:g.37965354_37965355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 2	NC_000002.12:g.37965354_37965355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 2	NC_000002.11:g.38192496_38192497del
GRCh37.p13 chr 2	NC_000002.11:g.38192497del
GRCh37.p13 chr 2	NC_000002.11:g.38192497dup
GRCh37.p13 chr 2	NC_000002.11:g.38192496_38192497dup
GRCh37.p13 chr 2	NC_000002.11:g.38192482_38192497T[22]ATTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 2	NC_000002.11:g.38192497_38192498insTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 2	NC_000002.11:g.38192482_38192497T[46]ATTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 2	NC_000002.11:g.38192497_38192498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 2	NC_000002.11:g.38192497_38192498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 2	NC_000002.11:g.38192497_38192498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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

Molecule type	Change	Amino acid[Codon]	SO Term
RMDN2 transcript variant 2	NM_001170791.3:c.453-8687… NM_001170791.3:c.453-8687_453-8686del	N/A	Intron Variant
RMDN2 transcript variant 3	NM_001170792.3:c.453-8687… NM_001170792.3:c.453-8687_453-8686del	N/A	Intron Variant
RMDN2 transcript variant 4	NM_001170793.3:c.18-8687_… NM_001170793.3:c.18-8687_18-8686del	N/A	Intron Variant
RMDN2 transcript variant 5	NM_001322211.2:c.453-8687… NM_001322211.2:c.453-8687_453-8686del	N/A	Intron Variant
RMDN2 transcript variant 6	NM_001322212.2:c.453-8687… NM_001322212.2:c.453-8687_453-8686del	N/A	Intron Variant
RMDN2 transcript variant 1	NM_144713.5:c.987-8687_98… NM_144713.5:c.987-8687_987-8686del	N/A	Intron Variant
RMDN2 transcript variant X1	XM_011532614.4:c.987-8687… XM_011532614.4:c.987-8687_987-8686del	N/A	Intron Variant
RMDN2 transcript variant X2	XM_011532615.4:c.987-8687… XM_011532615.4:c.987-8687_987-8686del	N/A	Intron Variant
RMDN2 transcript variant X5	XM_011532616.3:c.453-8687… XM_011532616.3:c.453-8687_453-8686del	N/A	Intron Variant
RMDN2 transcript variant X3	XM_017003474.2:c.987-8687… XM_017003474.2:c.987-8687_987-8686del	N/A	Intron Variant
RMDN2 transcript variant X6	XM_017003476.3:c.453-8687… XM_017003476.3:c.453-8687_453-8686del	N/A	Intron Variant
RMDN2 transcript variant X7	XM_017003477.3:c.453-8687… XM_017003477.3:c.453-8687_453-8686del	N/A	Intron Variant
RMDN2 transcript variant X8	XM_017003478.2:c.453-8687… XM_017003478.2:c.453-8687_453-8686del	N/A	Intron Variant
RMDN2 transcript variant X9	XM_047443518.1:c.453-8687… XM_047443518.1:c.453-8687_453-8686del	N/A	Intron Variant
RMDN2 transcript variant X10	XM_047443519.1:c.453-8687… XM_047443519.1:c.453-8687_453-8686del	N/A	Intron Variant
RMDN2 transcript variant X11	XM_047443520.1:c.18-8687_… XM_047443520.1:c.18-8687_18-8686del	N/A	Intron Variant
RMDN2 transcript variant X12	XM_047443521.1:c.18-8687_… XM_047443521.1:c.18-8687_18-8686del	N/A	Intron Variant
RMDN2 transcript variant X4	XR_939668.4:n.	N/A	Intron Variant

Gene: RMDN2-AS1, RMDN2 antisense RNA 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RMDN2-AS1 transcript	NR_102712.1:n.	N/A	Intron 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=	delTT	delT	dupT	dupTT	ins(T)₆A(T)₁₇	ins(T)₂₆	ins(T)₃₀A(T)₁₇	ins(T)₃₇	ins(T)₃₈	ins(T)₃₉
GRCh38.p14 chr 2	NC_000002.12:g.37965339_37965354=	NC_000002.12:g.37965353_37965354del	NC_000002.12:g.37965354del	NC_000002.12:g.37965354dup	NC_000002.12:g.37965353_37965354dup	NC_000002.12:g.37965339_37965354T[22]ATTTTTTTTTTTTTTTTT[1]	NC_000002.12:g.37965354_37965355insTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:g.37965339_37965354T[46]ATTTTTTTTTTTTTTTTT[1]	NC_000002.12:g.37965354_37965355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:g.37965354_37965355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:g.37965354_37965355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 2	NC_000002.11:g.38192482_38192497=	NC_000002.11:g.38192496_38192497del	NC_000002.11:g.38192497del	NC_000002.11:g.38192497dup	NC_000002.11:g.38192496_38192497dup	NC_000002.11:g.38192482_38192497T[22]ATTTTTTTTTTTTTTTTT[1]	NC_000002.11:g.38192497_38192498insTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.11:g.38192482_38192497T[46]ATTTTTTTTTTTTTTTTT[1]	NC_000002.11:g.38192497_38192498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.11:g.38192497_38192498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.11:g.38192497_38192498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant 3	NM_001170791.1:c.453-8701=	NM_001170791.1:c.453-8687_453-8686del	NM_001170791.1:c.453-8686del	NM_001170791.1:c.453-8686dup	NM_001170791.1:c.453-8687_453-8686dup	NM_001170791.1:c.453-8686_453-8685insTTTTTTATTTTTTTTTTTTTTTTT	NM_001170791.1:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001170791.1:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT	NM_001170791.1:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001170791.1:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001170791.1:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant 2	NM_001170791.3:c.453-8701=	NM_001170791.3:c.453-8687_453-8686del	NM_001170791.3:c.453-8686del	NM_001170791.3:c.453-8686dup	NM_001170791.3:c.453-8687_453-8686dup	NM_001170791.3:c.453-8686_453-8685insTTTTTTATTTTTTTTTTTTTTTTT	NM_001170791.3:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001170791.3:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT	NM_001170791.3:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001170791.3:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001170791.3:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant 2	NM_001170792.1:c.453-8701=	NM_001170792.1:c.453-8687_453-8686del	NM_001170792.1:c.453-8686del	NM_001170792.1:c.453-8686dup	NM_001170792.1:c.453-8687_453-8686dup	NM_001170792.1:c.453-8686_453-8685insTTTTTTATTTTTTTTTTTTTTTTT	NM_001170792.1:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001170792.1:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT	NM_001170792.1:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001170792.1:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001170792.1:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant 3	NM_001170792.3:c.453-8701=	NM_001170792.3:c.453-8687_453-8686del	NM_001170792.3:c.453-8686del	NM_001170792.3:c.453-8686dup	NM_001170792.3:c.453-8687_453-8686dup	NM_001170792.3:c.453-8686_453-8685insTTTTTTATTTTTTTTTTTTTTTTT	NM_001170792.3:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001170792.3:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT	NM_001170792.3:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001170792.3:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001170792.3:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant 4	NM_001170793.1:c.18-8701=	NM_001170793.1:c.18-8687_18-8686del	NM_001170793.1:c.18-8686del	NM_001170793.1:c.18-8686dup	NM_001170793.1:c.18-8687_18-8686dup	NM_001170793.1:c.18-8686_18-8685insTTTTTTATTTTTTTTTTTTTTTTT	NM_001170793.1:c.18-8686_18-8685insTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001170793.1:c.18-8686_18-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT	NM_001170793.1:c.18-8686_18-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001170793.1:c.18-8686_18-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001170793.1:c.18-8686_18-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant 4	NM_001170793.3:c.18-8701=	NM_001170793.3:c.18-8687_18-8686del	NM_001170793.3:c.18-8686del	NM_001170793.3:c.18-8686dup	NM_001170793.3:c.18-8687_18-8686dup	NM_001170793.3:c.18-8686_18-8685insTTTTTTATTTTTTTTTTTTTTTTT	NM_001170793.3:c.18-8686_18-8685insTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001170793.3:c.18-8686_18-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT	NM_001170793.3:c.18-8686_18-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001170793.3:c.18-8686_18-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001170793.3:c.18-8686_18-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant 5	NM_001322211.2:c.453-8701=	NM_001322211.2:c.453-8687_453-8686del	NM_001322211.2:c.453-8686del	NM_001322211.2:c.453-8686dup	NM_001322211.2:c.453-8687_453-8686dup	NM_001322211.2:c.453-8686_453-8685insTTTTTTATTTTTTTTTTTTTTTTT	NM_001322211.2:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001322211.2:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT	NM_001322211.2:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001322211.2:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001322211.2:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant 6	NM_001322212.2:c.453-8701=	NM_001322212.2:c.453-8687_453-8686del	NM_001322212.2:c.453-8686del	NM_001322212.2:c.453-8686dup	NM_001322212.2:c.453-8687_453-8686dup	NM_001322212.2:c.453-8686_453-8685insTTTTTTATTTTTTTTTTTTTTTTT	NM_001322212.2:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001322212.2:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT	NM_001322212.2:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001322212.2:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001322212.2:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant 1	NM_144713.3:c.987-8701=	NM_144713.3:c.987-8687_987-8686del	NM_144713.3:c.987-8686del	NM_144713.3:c.987-8686dup	NM_144713.3:c.987-8687_987-8686dup	NM_144713.3:c.987-8686_987-8685insTTTTTTATTTTTTTTTTTTTTTTT	NM_144713.3:c.987-8686_987-8685insTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_144713.3:c.987-8686_987-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT	NM_144713.3:c.987-8686_987-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_144713.3:c.987-8686_987-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_144713.3:c.987-8686_987-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant 1	NM_144713.5:c.987-8701=	NM_144713.5:c.987-8687_987-8686del	NM_144713.5:c.987-8686del	NM_144713.5:c.987-8686dup	NM_144713.5:c.987-8687_987-8686dup	NM_144713.5:c.987-8686_987-8685insTTTTTTATTTTTTTTTTTTTTTTT	NM_144713.5:c.987-8686_987-8685insTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_144713.5:c.987-8686_987-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT	NM_144713.5:c.987-8686_987-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_144713.5:c.987-8686_987-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_144713.5:c.987-8686_987-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant X1	XM_005264161.1:c.453-8701=	XM_005264161.1:c.453-8687_453-8686del	XM_005264161.1:c.453-8686del	XM_005264161.1:c.453-8686dup	XM_005264161.1:c.453-8687_453-8686dup	XM_005264161.1:c.453-8686_453-8685insTTTTTTATTTTTTTTTTTTTTTTT	XM_005264161.1:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005264161.1:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT	XM_005264161.1:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005264161.1:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005264161.1:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant X2	XM_005264162.1:c.18-8701=	XM_005264162.1:c.18-8687_18-8686del	XM_005264162.1:c.18-8686del	XM_005264162.1:c.18-8686dup	XM_005264162.1:c.18-8687_18-8686dup	XM_005264162.1:c.18-8686_18-8685insTTTTTTATTTTTTTTTTTTTTTTT	XM_005264162.1:c.18-8686_18-8685insTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005264162.1:c.18-8686_18-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT	XM_005264162.1:c.18-8686_18-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005264162.1:c.18-8686_18-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005264162.1:c.18-8686_18-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant X1	XM_011532614.4:c.987-8701=	XM_011532614.4:c.987-8687_987-8686del	XM_011532614.4:c.987-8686del	XM_011532614.4:c.987-8686dup	XM_011532614.4:c.987-8687_987-8686dup	XM_011532614.4:c.987-8686_987-8685insTTTTTTATTTTTTTTTTTTTTTTT	XM_011532614.4:c.987-8686_987-8685insTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011532614.4:c.987-8686_987-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT	XM_011532614.4:c.987-8686_987-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011532614.4:c.987-8686_987-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011532614.4:c.987-8686_987-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant X2	XM_011532615.4:c.987-8701=	XM_011532615.4:c.987-8687_987-8686del	XM_011532615.4:c.987-8686del	XM_011532615.4:c.987-8686dup	XM_011532615.4:c.987-8687_987-8686dup	XM_011532615.4:c.987-8686_987-8685insTTTTTTATTTTTTTTTTTTTTTTT	XM_011532615.4:c.987-8686_987-8685insTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011532615.4:c.987-8686_987-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT	XM_011532615.4:c.987-8686_987-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011532615.4:c.987-8686_987-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011532615.4:c.987-8686_987-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant X5	XM_011532616.3:c.453-8701=	XM_011532616.3:c.453-8687_453-8686del	XM_011532616.3:c.453-8686del	XM_011532616.3:c.453-8686dup	XM_011532616.3:c.453-8687_453-8686dup	XM_011532616.3:c.453-8686_453-8685insTTTTTTATTTTTTTTTTTTTTTTT	XM_011532616.3:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011532616.3:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT	XM_011532616.3:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011532616.3:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011532616.3:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant X3	XM_017003474.2:c.987-8701=	XM_017003474.2:c.987-8687_987-8686del	XM_017003474.2:c.987-8686del	XM_017003474.2:c.987-8686dup	XM_017003474.2:c.987-8687_987-8686dup	XM_017003474.2:c.987-8686_987-8685insTTTTTTATTTTTTTTTTTTTTTTT	XM_017003474.2:c.987-8686_987-8685insTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_017003474.2:c.987-8686_987-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT	XM_017003474.2:c.987-8686_987-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_017003474.2:c.987-8686_987-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_017003474.2:c.987-8686_987-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant X6	XM_017003476.3:c.453-8701=	XM_017003476.3:c.453-8687_453-8686del	XM_017003476.3:c.453-8686del	XM_017003476.3:c.453-8686dup	XM_017003476.3:c.453-8687_453-8686dup	XM_017003476.3:c.453-8686_453-8685insTTTTTTATTTTTTTTTTTTTTTTT	XM_017003476.3:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_017003476.3:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT	XM_017003476.3:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_017003476.3:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_017003476.3:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant X7	XM_017003477.3:c.453-8701=	XM_017003477.3:c.453-8687_453-8686del	XM_017003477.3:c.453-8686del	XM_017003477.3:c.453-8686dup	XM_017003477.3:c.453-8687_453-8686dup	XM_017003477.3:c.453-8686_453-8685insTTTTTTATTTTTTTTTTTTTTTTT	XM_017003477.3:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_017003477.3:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT	XM_017003477.3:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_017003477.3:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_017003477.3:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant X8	XM_017003478.2:c.453-8701=	XM_017003478.2:c.453-8687_453-8686del	XM_017003478.2:c.453-8686del	XM_017003478.2:c.453-8686dup	XM_017003478.2:c.453-8687_453-8686dup	XM_017003478.2:c.453-8686_453-8685insTTTTTTATTTTTTTTTTTTTTTTT	XM_017003478.2:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_017003478.2:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT	XM_017003478.2:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_017003478.2:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_017003478.2:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant X9	XM_047443518.1:c.453-8701=	XM_047443518.1:c.453-8687_453-8686del	XM_047443518.1:c.453-8686del	XM_047443518.1:c.453-8686dup	XM_047443518.1:c.453-8687_453-8686dup	XM_047443518.1:c.453-8686_453-8685insTTTTTTATTTTTTTTTTTTTTTTT	XM_047443518.1:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047443518.1:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT	XM_047443518.1:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047443518.1:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047443518.1:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant X10	XM_047443519.1:c.453-8701=	XM_047443519.1:c.453-8687_453-8686del	XM_047443519.1:c.453-8686del	XM_047443519.1:c.453-8686dup	XM_047443519.1:c.453-8687_453-8686dup	XM_047443519.1:c.453-8686_453-8685insTTTTTTATTTTTTTTTTTTTTTTT	XM_047443519.1:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047443519.1:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT	XM_047443519.1:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047443519.1:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047443519.1:c.453-8686_453-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant X11	XM_047443520.1:c.18-8701=	XM_047443520.1:c.18-8687_18-8686del	XM_047443520.1:c.18-8686del	XM_047443520.1:c.18-8686dup	XM_047443520.1:c.18-8687_18-8686dup	XM_047443520.1:c.18-8686_18-8685insTTTTTTATTTTTTTTTTTTTTTTT	XM_047443520.1:c.18-8686_18-8685insTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047443520.1:c.18-8686_18-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT	XM_047443520.1:c.18-8686_18-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047443520.1:c.18-8686_18-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047443520.1:c.18-8686_18-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RMDN2 transcript variant X12	XM_047443521.1:c.18-8701=	XM_047443521.1:c.18-8687_18-8686del	XM_047443521.1:c.18-8686del	XM_047443521.1:c.18-8686dup	XM_047443521.1:c.18-8687_18-8686dup	XM_047443521.1:c.18-8686_18-8685insTTTTTTATTTTTTTTTTTTTTTTT	XM_047443521.1:c.18-8686_18-8685insTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047443521.1:c.18-8686_18-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT	XM_047443521.1:c.18-8686_18-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047443521.1:c.18-8686_18-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047443521.1:c.18-8686_18-8685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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#.

29 SubSNP, 14 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCMHGSC_JDW	ss103624263	Dec 06, 2013 (138)
2	PJP	ss294980271	Aug 21, 2014 (142)
3	SSMP	ss663306241	Jan 10, 2018 (151)
4	SWEGEN	ss2989309590	Nov 08, 2017 (151)
5	MCHAISSO	ss3065736094	Nov 08, 2017 (151)
6	PACBIO	ss3783833543	Jul 13, 2019 (153)
7	EVA	ss3826923388	Apr 25, 2020 (154)
8	GNOMAD	ss4039047758	Apr 26, 2021 (155)
9	GNOMAD	ss4039047759	Apr 26, 2021 (155)
10	GNOMAD	ss4039047760	Apr 26, 2021 (155)
11	GNOMAD	ss4039047761	Apr 26, 2021 (155)
12	GNOMAD	ss4039047762	Apr 26, 2021 (155)
13	GNOMAD	ss4039047763	Apr 26, 2021 (155)
14	GNOMAD	ss4039047764	Apr 26, 2021 (155)
15	TOMMO_GENOMICS	ss5150788663	Apr 26, 2021 (155)
16	TOMMO_GENOMICS	ss5150788664	Apr 26, 2021 (155)
17	TOMMO_GENOMICS	ss5150788665	Apr 26, 2021 (155)
18	1000G_HIGH_COVERAGE	ss5247626430	Oct 13, 2022 (156)
19	1000G_HIGH_COVERAGE	ss5247626431	Oct 13, 2022 (156)
20	1000G_HIGH_COVERAGE	ss5247626432	Oct 13, 2022 (156)
21	1000G_HIGH_COVERAGE	ss5247626433	Oct 13, 2022 (156)
22	HUGCELL_USP	ss5447869398	Oct 13, 2022 (156)
23	HUGCELL_USP	ss5447869399	Oct 13, 2022 (156)
24	HUGCELL_USP	ss5447869400	Oct 13, 2022 (156)
25	HUGCELL_USP	ss5447869401	Oct 13, 2022 (156)
26	TOMMO_GENOMICS	ss5679246751	Oct 13, 2022 (156)
27	TOMMO_GENOMICS	ss5679246753	Oct 13, 2022 (156)
28	TOMMO_GENOMICS	ss5679246754	Oct 13, 2022 (156)
29	EVA	ss5852473991	Oct 13, 2022 (156)
30	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54359715 (NC_000002.12:37965338::T 6121/102360) Row 54359716 (NC_000002.12:37965338::TT 108/102384) Row 54359717 (NC_000002.12:37965338::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 1/102416)...	-	Apr 26, 2021 (155)
31	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54359715 (NC_000002.12:37965338::T 6121/102360) Row 54359716 (NC_000002.12:37965338::TT 108/102384) Row 54359717 (NC_000002.12:37965338::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 1/102416)...	-	Apr 26, 2021 (155)
32	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54359715 (NC_000002.12:37965338::T 6121/102360) Row 54359716 (NC_000002.12:37965338::TT 108/102384) Row 54359717 (NC_000002.12:37965338::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 1/102416)...	-	Apr 26, 2021 (155)
33	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54359715 (NC_000002.12:37965338::T 6121/102360) Row 54359716 (NC_000002.12:37965338::TT 108/102384) Row 54359717 (NC_000002.12:37965338::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 1/102416)...	-	Apr 26, 2021 (155)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54359715 (NC_000002.12:37965338::T 6121/102360) Row 54359716 (NC_000002.12:37965338::TT 108/102384) Row 54359717 (NC_000002.12:37965338::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 1/102416)...	-	Apr 26, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54359715 (NC_000002.12:37965338::T 6121/102360) Row 54359716 (NC_000002.12:37965338::TT 108/102384) Row 54359717 (NC_000002.12:37965338::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 1/102416)...	-	Apr 26, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54359715 (NC_000002.12:37965338::T 6121/102360) Row 54359716 (NC_000002.12:37965338::TT 108/102384) Row 54359717 (NC_000002.12:37965338::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 1/102416)...	-	Apr 26, 2021 (155)
37	8.3KJPN Submission ignored due to conflicting rows: Row 8757970 (NC_000002.11:38192481:TT: 383/16760) Row 8757971 (NC_000002.11:38192481:T: 49/16760) Row 8757972 (NC_000002.11:38192481::T 20/16760)	-	Apr 26, 2021 (155)
38	8.3KJPN Submission ignored due to conflicting rows: Row 8757970 (NC_000002.11:38192481:TT: 383/16760) Row 8757971 (NC_000002.11:38192481:T: 49/16760) Row 8757972 (NC_000002.11:38192481::T 20/16760)	-	Apr 26, 2021 (155)
39	8.3KJPN Submission ignored due to conflicting rows: Row 8757970 (NC_000002.11:38192481:TT: 383/16760) Row 8757971 (NC_000002.11:38192481:T: 49/16760) Row 8757972 (NC_000002.11:38192481::T 20/16760)	-	Apr 26, 2021 (155)
40	14KJPN Submission ignored due to conflicting rows: Row 13083855 (NC_000002.12:37965338:TT: 646/28204) Row 13083857 (NC_000002.12:37965338:T: 73/28204) Row 13083858 (NC_000002.12:37965338::T 26/28204)	-	Oct 13, 2022 (156)
41	14KJPN Submission ignored due to conflicting rows: Row 13083855 (NC_000002.12:37965338:TT: 646/28204) Row 13083857 (NC_000002.12:37965338:T: 73/28204) Row 13083858 (NC_000002.12:37965338::T 26/28204)	-	Oct 13, 2022 (156)
42	14KJPN Submission ignored due to conflicting rows: Row 13083855 (NC_000002.12:37965338:TT: 646/28204) Row 13083857 (NC_000002.12:37965338:T: 73/28204) Row 13083858 (NC_000002.12:37965338::T 26/28204)	-	Oct 13, 2022 (156)
43	ALFA	NC_000002.12 - 37965339	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)
rs141281572	May 11, 2012 (137)
rs796542479	Nov 08, 2017 (151)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss663306241, ss5150788663	NC_000002.11:38192481:TT:	NC_000002.12:37965338:TTTTTTTTTTTT… NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4039047764, ss5247626433, ss5447869399, ss5679246751	NC_000002.12:37965338:TT:	NC_000002.12:37965338:TTTTTTTTTTTT… NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
6566246743	NC_000002.12:37965338:TTTTTTTTTTTT… NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000002.12:37965338:TTTTTTTTTTTT… NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss103624263	NT_022184.15:17014382:TT:	NC_000002.12:37965338:TTTTTTTTTTTT… NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss2989309590, ss3783833543, ss5150788664	NC_000002.11:38192481:T:	NC_000002.12:37965338:TTTTTTTTTTTT… NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4039047763, ss5247626432, ss5447869400, ss5679246753	NC_000002.12:37965338:T:	NC_000002.12:37965338:TTTTTTTTTTTT… NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
6566246743	NC_000002.12:37965338:TTTTTTTTTTTT… NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000002.12:37965338:TTTTTTTTTTTT… NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss294980271	NC_000002.10:38045986::T	NC_000002.12:37965338:TTTTTTTTTTTT… NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3826923388, ss5150788665	NC_000002.11:38192481::T	NC_000002.12:37965338:TTTTTTTTTTTT… NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3065736094, ss4039047758, ss5247626430, ss5447869398, ss5679246754, ss5852473991	NC_000002.12:37965338::T	NC_000002.12:37965338:TTTTTTTTTTTT… NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
6566246743	NC_000002.12:37965338:TTTTTTTTTTTT… NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000002.12:37965338:TTTTTTTTTTTT… NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4039047759, ss5247626431, ss5447869401	NC_000002.12:37965338::TT	NC_000002.12:37965338:TTTTTTTTTTTT… NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
6566246743	NC_000002.12:37965338:TTTTTTTTTTTT… NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000002.12:37965338:TTTTTTTTTTTT… NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
6566246743	NC_000002.12:37965338:TTTTTTTTTTTT… NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT	NC_000002.12:37965338:TTTTTTTTTTTT… NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT	(self)
6566246743	NC_000002.12:37965338:TTTTTTTTTTTT… NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:37965338:TTTTTTTTTTTT… NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4039047762	NC_000002.12:37965338::TTTTTTTTTTT… NC_000002.12:37965338::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAT	NC_000002.12:37965338:TTTTTTTTTTTT… NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT	(self)
ss4039047760	NC_000002.12:37965338::TTTTTTTTTTT… NC_000002.12:37965338::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:37965338:TTTTTTTTTTTT… NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
6566246743	NC_000002.12:37965338:TTTTTTTTTTTT… NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:37965338:TTTTTTTTTTTT… NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4039047761	NC_000002.12:37965338::TTTTTTTTTTT… NC_000002.12:37965338::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:37965338:TTTTTTTTTTTT… NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

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

No publications for rs398060100

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

rs398060100