Name: rs5848517
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.

rs5848517

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:39526774-39526793 (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)₁₃ / del(T)₁₁ / del(T)₁₀ / d…
del(T)₁₃ / del(T)₁₁ / del(T)₁₀ / del(T)₉ / del(T)₈ / del(T)₆ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₇ / dup(T)₈ / dup(T)₁₅
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₁₃=0.000004 (1/264690, TOPMED)
(T)₂₀=0.3376 (1549/4588, ALFA)
(T)₂₀=0.0042 (16/3854, ALSPAC) (+ 1 more)
(T)₂₀=0.0027 (10/3708, TWINSUK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MOBP : Non Coding Transcript 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	4588	TTTTTTTTTTTTTTTTTTTT=0.3376	TTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.5399, TTTTTTTTTTTTTTTTTTTTTT=0.1044, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0052, TTTTTTTTTTTTTTTTTTTTTTT=0.0039, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0052, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0037, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.39065	0.568512	0.040838	32
European	Sub	4486	TTTTTTTTTTTTTTTTTTTT=0.3239	TTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.5510, TTTTTTTTTTTTTTTTTTTTTT=0.1066, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0053, TTTTTTTTTTTTTTTTTTTTTTT=0.0040, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0053, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0038, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.374931	0.583103	0.041966	32
African	Sub	78	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African Others	Sub	2	TTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTT=0.0, TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
African American	Sub	76	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Asian	Sub	6	TTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTT=0.0, TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	2	TTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTT=0.0, TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	4	TTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTT=0.0, TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	2	TTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTT=0.0, TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTT=0, TTTTTTTTT=0, TTTTTTTTTT=0, TTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
South Asian	Sub	6	TTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTT=0.0, TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other	Sub	10	TTTTTTTTTTTTTTTTTTTT=0.4	TTTTTTT=0.0, TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.5, TTTTTTTTTTTTTTTTTTTTTT=0.1, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0	0.5	0.5	0.0	3

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)₂₀=0.999996	del(T)₁₃=0.000004
Allele Frequency Aggregator	Total	Global	4588	(T)₂₀=0.3376	del(T)₁₃=0.0000, del(T)₁₁=0.0000, del(T)₁₀=0.0000, del(T)₉=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.5399, dupTT=0.1044, dupTTT=0.0039, dup(T)₄=0.0000, dup(T)₅=0.0052, dup(T)₆=0.0037, dup(T)₇=0.0052
Allele Frequency Aggregator	European	Sub	4486	(T)₂₀=0.3239	del(T)₁₃=0.0000, del(T)₁₁=0.0000, del(T)₁₀=0.0000, del(T)₉=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.5510, dupTT=0.1066, dupTTT=0.0040, dup(T)₄=0.0000, dup(T)₅=0.0053, dup(T)₆=0.0038, dup(T)₇=0.0053
Allele Frequency Aggregator	African	Sub	78	(T)₂₀=1.00	del(T)₁₃=0.00, del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₉=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=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
Allele Frequency Aggregator	Other	Sub	10	(T)₂₀=0.4	del(T)₁₃=0.0, del(T)₁₁=0.0, del(T)₁₀=0.0, del(T)₉=0.0, del(T)₆=0.0, del(T)₅=0.0, del(T)₄=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.5, dupTT=0.1, dupTTT=0.0, dup(T)₄=0.0, dup(T)₅=0.0, dup(T)₆=0.0, dup(T)₇=0.0
Allele Frequency Aggregator	South Asian	Sub	6	(T)₂₀=1.0	del(T)₁₃=0.0, del(T)₁₁=0.0, del(T)₁₀=0.0, del(T)₉=0.0, del(T)₆=0.0, del(T)₅=0.0, del(T)₄=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
Allele Frequency Aggregator	Asian	Sub	6	(T)₂₀=1.0	del(T)₁₃=0.0, del(T)₁₁=0.0, del(T)₁₀=0.0, del(T)₉=0.0, del(T)₆=0.0, del(T)₅=0.0, del(T)₄=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
Allele Frequency Aggregator	Latin American 1	Sub	2	(T)₂₀=1.0	del(T)₁₃=0.0, del(T)₁₁=0.0, del(T)₁₀=0.0, del(T)₉=0.0, del(T)₆=0.0, del(T)₅=0.0, del(T)₄=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
Allele Frequency Aggregator	Latin American 2	Sub	0	(T)₂₀=0	del(T)₁₃=0, del(T)₁₁=0, del(T)₁₀=0, del(T)₉=0, del(T)₆=0, del(T)₅=0, del(T)₄=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
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	- No frequency provided	dupT=0.9958
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	- No frequency provided	dupT=0.9973

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 3	NC_000003.12:g.39526781_39526793del
GRCh38.p14 chr 3	NC_000003.12:g.39526783_39526793del
GRCh38.p14 chr 3	NC_000003.12:g.39526784_39526793del
GRCh38.p14 chr 3	NC_000003.12:g.39526785_39526793del
GRCh38.p14 chr 3	NC_000003.12:g.39526786_39526793del
GRCh38.p14 chr 3	NC_000003.12:g.39526788_39526793del
GRCh38.p14 chr 3	NC_000003.12:g.39526789_39526793del
GRCh38.p14 chr 3	NC_000003.12:g.39526790_39526793del
GRCh38.p14 chr 3	NC_000003.12:g.39526791_39526793del
GRCh38.p14 chr 3	NC_000003.12:g.39526792_39526793del
GRCh38.p14 chr 3	NC_000003.12:g.39526793del
GRCh38.p14 chr 3	NC_000003.12:g.39526793dup
GRCh38.p14 chr 3	NC_000003.12:g.39526792_39526793dup
GRCh38.p14 chr 3	NC_000003.12:g.39526791_39526793dup
GRCh38.p14 chr 3	NC_000003.12:g.39526790_39526793dup
GRCh38.p14 chr 3	NC_000003.12:g.39526789_39526793dup
GRCh38.p14 chr 3	NC_000003.12:g.39526788_39526793dup
GRCh38.p14 chr 3	NC_000003.12:g.39526787_39526793dup
GRCh38.p14 chr 3	NC_000003.12:g.39526786_39526793dup
GRCh38.p14 chr 3	NC_000003.12:g.39526779_39526793dup
GRCh37.p13 chr 3	NC_000003.11:g.39568272_39568284del
GRCh37.p13 chr 3	NC_000003.11:g.39568274_39568284del
GRCh37.p13 chr 3	NC_000003.11:g.39568275_39568284del
GRCh37.p13 chr 3	NC_000003.11:g.39568276_39568284del
GRCh37.p13 chr 3	NC_000003.11:g.39568277_39568284del
GRCh37.p13 chr 3	NC_000003.11:g.39568279_39568284del
GRCh37.p13 chr 3	NC_000003.11:g.39568280_39568284del
GRCh37.p13 chr 3	NC_000003.11:g.39568281_39568284del
GRCh37.p13 chr 3	NC_000003.11:g.39568282_39568284del
GRCh37.p13 chr 3	NC_000003.11:g.39568283_39568284del
GRCh37.p13 chr 3	NC_000003.11:g.39568284del
GRCh37.p13 chr 3	NC_000003.11:g.39568284dup
GRCh37.p13 chr 3	NC_000003.11:g.39568283_39568284dup
GRCh37.p13 chr 3	NC_000003.11:g.39568282_39568284dup
GRCh37.p13 chr 3	NC_000003.11:g.39568281_39568284dup
GRCh37.p13 chr 3	NC_000003.11:g.39568280_39568284dup
GRCh37.p13 chr 3	NC_000003.11:g.39568279_39568284dup
GRCh37.p13 chr 3	NC_000003.11:g.39568278_39568284dup
GRCh37.p13 chr 3	NC_000003.11:g.39568277_39568284dup
GRCh37.p13 chr 3	NC_000003.11:g.39568270_39568284dup

Gene: MOBP, myelin associated oligodendrocyte basic protein (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MOBP transcript variant 1	NM_001278322.2:c.	N/A	Genic Downstream Transcript Variant
MOBP transcript variant 2	NM_001278323.2:c.	N/A	Genic Downstream Transcript Variant
MOBP transcript variant 8	NM_001393704.1:c.	N/A	Genic Downstream Transcript Variant
MOBP transcript variant 3	NM_182935.4:c.	N/A	Genic Downstream Transcript Variant
MOBP transcript variant 4	NR_003090.3:n.3001_3013del	N/A	Non Coding Transcript Variant
MOBP transcript variant 4	NR_003090.3:n.3003_3013del	N/A	Non Coding Transcript Variant
MOBP transcript variant 4	NR_003090.3:n.3004_3013del	N/A	Non Coding Transcript Variant
MOBP transcript variant 4	NR_003090.3:n.3005_3013del	N/A	Non Coding Transcript Variant
MOBP transcript variant 4	NR_003090.3:n.3006_3013del	N/A	Non Coding Transcript Variant
MOBP transcript variant 4	NR_003090.3:n.3008_3013del	N/A	Non Coding Transcript Variant
MOBP transcript variant 4	NR_003090.3:n.3009_3013del	N/A	Non Coding Transcript Variant
MOBP transcript variant 4	NR_003090.3:n.3010_3013del	N/A	Non Coding Transcript Variant
MOBP transcript variant 4	NR_003090.3:n.3011_3013del	N/A	Non Coding Transcript Variant
MOBP transcript variant 4	NR_003090.3:n.3012_3013del	N/A	Non Coding Transcript Variant
MOBP transcript variant 4	NR_003090.3:n.3013del	N/A	Non Coding Transcript Variant
MOBP transcript variant 4	NR_003090.3:n.3013dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 4	NR_003090.3:n.3012_3013dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 4	NR_003090.3:n.3011_3013dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 4	NR_003090.3:n.3010_3013dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 4	NR_003090.3:n.3009_3013dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 4	NR_003090.3:n.3008_3013dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 4	NR_003090.3:n.3007_3013dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 4	NR_003090.3:n.3006_3013dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 4	NR_003090.3:n.2999_3013dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 5	NR_103504.2:n.3343_3355del	N/A	Non Coding Transcript Variant
MOBP transcript variant 5	NR_103504.2:n.3345_3355del	N/A	Non Coding Transcript Variant
MOBP transcript variant 5	NR_103504.2:n.3346_3355del	N/A	Non Coding Transcript Variant
MOBP transcript variant 5	NR_103504.2:n.3347_3355del	N/A	Non Coding Transcript Variant
MOBP transcript variant 5	NR_103504.2:n.3348_3355del	N/A	Non Coding Transcript Variant
MOBP transcript variant 5	NR_103504.2:n.3350_3355del	N/A	Non Coding Transcript Variant
MOBP transcript variant 5	NR_103504.2:n.3351_3355del	N/A	Non Coding Transcript Variant
MOBP transcript variant 5	NR_103504.2:n.3352_3355del	N/A	Non Coding Transcript Variant
MOBP transcript variant 5	NR_103504.2:n.3353_3355del	N/A	Non Coding Transcript Variant
MOBP transcript variant 5	NR_103504.2:n.3354_3355del	N/A	Non Coding Transcript Variant
MOBP transcript variant 5	NR_103504.2:n.3355del	N/A	Non Coding Transcript Variant
MOBP transcript variant 5	NR_103504.2:n.3355dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 5	NR_103504.2:n.3354_3355dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 5	NR_103504.2:n.3353_3355dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 5	NR_103504.2:n.3352_3355dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 5	NR_103504.2:n.3351_3355dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 5	NR_103504.2:n.3350_3355dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 5	NR_103504.2:n.3349_3355dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 5	NR_103504.2:n.3348_3355dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 5	NR_103504.2:n.3341_3355dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 6	NR_103505.2:n.3381_3393del	N/A	Non Coding Transcript Variant
MOBP transcript variant 6	NR_103505.2:n.3383_3393del	N/A	Non Coding Transcript Variant
MOBP transcript variant 6	NR_103505.2:n.3384_3393del	N/A	Non Coding Transcript Variant
MOBP transcript variant 6	NR_103505.2:n.3385_3393del	N/A	Non Coding Transcript Variant
MOBP transcript variant 6	NR_103505.2:n.3386_3393del	N/A	Non Coding Transcript Variant
MOBP transcript variant 6	NR_103505.2:n.3388_3393del	N/A	Non Coding Transcript Variant
MOBP transcript variant 6	NR_103505.2:n.3389_3393del	N/A	Non Coding Transcript Variant
MOBP transcript variant 6	NR_103505.2:n.3390_3393del	N/A	Non Coding Transcript Variant
MOBP transcript variant 6	NR_103505.2:n.3391_3393del	N/A	Non Coding Transcript Variant
MOBP transcript variant 6	NR_103505.2:n.3392_3393del	N/A	Non Coding Transcript Variant
MOBP transcript variant 6	NR_103505.2:n.3393del	N/A	Non Coding Transcript Variant
MOBP transcript variant 6	NR_103505.2:n.3393dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 6	NR_103505.2:n.3392_3393dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 6	NR_103505.2:n.3391_3393dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 6	NR_103505.2:n.3390_3393dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 6	NR_103505.2:n.3389_3393dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 6	NR_103505.2:n.3388_3393dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 6	NR_103505.2:n.3387_3393dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 6	NR_103505.2:n.3386_3393dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 6	NR_103505.2:n.3379_3393dup	N/A	Non Coding Transcript Variant
MOBP transcript variant 7	NR_103506.2: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)₂₀=	del(T)₁₃	del(T)₁₁	del(T)₁₀	del(T)₉	del(T)₈	del(T)₆	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈	dup(T)₁₅
GRCh38.p14 chr 3	NC_000003.12:g.39526774_39526793=	NC_000003.12:g.39526781_39526793del	NC_000003.12:g.39526783_39526793del	NC_000003.12:g.39526784_39526793del	NC_000003.12:g.39526785_39526793del	NC_000003.12:g.39526786_39526793del	NC_000003.12:g.39526788_39526793del	NC_000003.12:g.39526789_39526793del	NC_000003.12:g.39526790_39526793del	NC_000003.12:g.39526791_39526793del	NC_000003.12:g.39526792_39526793del	NC_000003.12:g.39526793del	NC_000003.12:g.39526793dup	NC_000003.12:g.39526792_39526793dup	NC_000003.12:g.39526791_39526793dup	NC_000003.12:g.39526790_39526793dup	NC_000003.12:g.39526789_39526793dup	NC_000003.12:g.39526788_39526793dup	NC_000003.12:g.39526787_39526793dup	NC_000003.12:g.39526786_39526793dup	NC_000003.12:g.39526779_39526793dup
GRCh37.p13 chr 3	NC_000003.11:g.39568265_39568284=	NC_000003.11:g.39568272_39568284del	NC_000003.11:g.39568274_39568284del	NC_000003.11:g.39568275_39568284del	NC_000003.11:g.39568276_39568284del	NC_000003.11:g.39568277_39568284del	NC_000003.11:g.39568279_39568284del	NC_000003.11:g.39568280_39568284del	NC_000003.11:g.39568281_39568284del	NC_000003.11:g.39568282_39568284del	NC_000003.11:g.39568283_39568284del	NC_000003.11:g.39568284del	NC_000003.11:g.39568284dup	NC_000003.11:g.39568283_39568284dup	NC_000003.11:g.39568282_39568284dup	NC_000003.11:g.39568281_39568284dup	NC_000003.11:g.39568280_39568284dup	NC_000003.11:g.39568279_39568284dup	NC_000003.11:g.39568278_39568284dup	NC_000003.11:g.39568277_39568284dup	NC_000003.11:g.39568270_39568284dup
MOBP transcript variant 4	NR_003090.3:n.2994_3013=	NR_003090.3:n.3001_3013del	NR_003090.3:n.3003_3013del	NR_003090.3:n.3004_3013del	NR_003090.3:n.3005_3013del	NR_003090.3:n.3006_3013del	NR_003090.3:n.3008_3013del	NR_003090.3:n.3009_3013del	NR_003090.3:n.3010_3013del	NR_003090.3:n.3011_3013del	NR_003090.3:n.3012_3013del	NR_003090.3:n.3013del	NR_003090.3:n.3013dup	NR_003090.3:n.3012_3013dup	NR_003090.3:n.3011_3013dup	NR_003090.3:n.3010_3013dup	NR_003090.3:n.3009_3013dup	NR_003090.3:n.3008_3013dup	NR_003090.3:n.3007_3013dup	NR_003090.3:n.3006_3013dup	NR_003090.3:n.2999_3013dup
MOBP transcript variant 4	NR_003090.2:n.3101_3120=	NR_003090.2:n.3108_3120del	NR_003090.2:n.3110_3120del	NR_003090.2:n.3111_3120del	NR_003090.2:n.3112_3120del	NR_003090.2:n.3113_3120del	NR_003090.2:n.3115_3120del	NR_003090.2:n.3116_3120del	NR_003090.2:n.3117_3120del	NR_003090.2:n.3118_3120del	NR_003090.2:n.3119_3120del	NR_003090.2:n.3120del	NR_003090.2:n.3120dup	NR_003090.2:n.3119_3120dup	NR_003090.2:n.3118_3120dup	NR_003090.2:n.3117_3120dup	NR_003090.2:n.3116_3120dup	NR_003090.2:n.3115_3120dup	NR_003090.2:n.3114_3120dup	NR_003090.2:n.3113_3120dup	NR_003090.2:n.3106_3120dup
MOBP transcript variant 6	NR_103505.2:n.3374_3393=	NR_103505.2:n.3381_3393del	NR_103505.2:n.3383_3393del	NR_103505.2:n.3384_3393del	NR_103505.2:n.3385_3393del	NR_103505.2:n.3386_3393del	NR_103505.2:n.3388_3393del	NR_103505.2:n.3389_3393del	NR_103505.2:n.3390_3393del	NR_103505.2:n.3391_3393del	NR_103505.2:n.3392_3393del	NR_103505.2:n.3393del	NR_103505.2:n.3393dup	NR_103505.2:n.3392_3393dup	NR_103505.2:n.3391_3393dup	NR_103505.2:n.3390_3393dup	NR_103505.2:n.3389_3393dup	NR_103505.2:n.3388_3393dup	NR_103505.2:n.3387_3393dup	NR_103505.2:n.3386_3393dup	NR_103505.2:n.3379_3393dup
MOBP transcript variant 6	NR_103505.1:n.3481_3500=	NR_103505.1:n.3488_3500del	NR_103505.1:n.3490_3500del	NR_103505.1:n.3491_3500del	NR_103505.1:n.3492_3500del	NR_103505.1:n.3493_3500del	NR_103505.1:n.3495_3500del	NR_103505.1:n.3496_3500del	NR_103505.1:n.3497_3500del	NR_103505.1:n.3498_3500del	NR_103505.1:n.3499_3500del	NR_103505.1:n.3500del	NR_103505.1:n.3500dup	NR_103505.1:n.3499_3500dup	NR_103505.1:n.3498_3500dup	NR_103505.1:n.3497_3500dup	NR_103505.1:n.3496_3500dup	NR_103505.1:n.3495_3500dup	NR_103505.1:n.3494_3500dup	NR_103505.1:n.3493_3500dup	NR_103505.1:n.3486_3500dup
MOBP transcript variant 5	NR_103504.2:n.3336_3355=	NR_103504.2:n.3343_3355del	NR_103504.2:n.3345_3355del	NR_103504.2:n.3346_3355del	NR_103504.2:n.3347_3355del	NR_103504.2:n.3348_3355del	NR_103504.2:n.3350_3355del	NR_103504.2:n.3351_3355del	NR_103504.2:n.3352_3355del	NR_103504.2:n.3353_3355del	NR_103504.2:n.3354_3355del	NR_103504.2:n.3355del	NR_103504.2:n.3355dup	NR_103504.2:n.3354_3355dup	NR_103504.2:n.3353_3355dup	NR_103504.2:n.3352_3355dup	NR_103504.2:n.3351_3355dup	NR_103504.2:n.3350_3355dup	NR_103504.2:n.3349_3355dup	NR_103504.2:n.3348_3355dup	NR_103504.2:n.3341_3355dup
MOBP transcript variant 5	NR_103504.1:n.3443_3462=	NR_103504.1:n.3450_3462del	NR_103504.1:n.3452_3462del	NR_103504.1:n.3453_3462del	NR_103504.1:n.3454_3462del	NR_103504.1:n.3455_3462del	NR_103504.1:n.3457_3462del	NR_103504.1:n.3458_3462del	NR_103504.1:n.3459_3462del	NR_103504.1:n.3460_3462del	NR_103504.1:n.3461_3462del	NR_103504.1:n.3462del	NR_103504.1:n.3462dup	NR_103504.1:n.3461_3462dup	NR_103504.1:n.3460_3462dup	NR_103504.1:n.3459_3462dup	NR_103504.1:n.3458_3462dup	NR_103504.1:n.3457_3462dup	NR_103504.1:n.3456_3462dup	NR_103504.1:n.3455_3462dup	NR_103504.1:n.3448_3462dup

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#.

60 SubSNP, 30 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss42028352	Mar 13, 2006 (144)
2	ABI	ss42091643	Mar 14, 2006 (144)
3	HGSV	ss77887264	Dec 07, 2007 (129)
4	HGSV	ss77893363	Dec 07, 2007 (129)
5	HUMANGENOME_JCVI	ss95315024	Feb 03, 2009 (130)
6	PJP	ss295096216	May 09, 2011 (144)
7	PJP	ss295096217	May 09, 2011 (144)
8	BILGI_BIOE	ss666203811	Apr 25, 2013 (138)
9	EVA_UK10K_TWINSUK	ss1703591893	Apr 01, 2015 (144)
10	EVA_UK10K_ALSPAC	ss1703591894	Apr 01, 2015 (144)
11	SWEGEN	ss2992164627	Nov 08, 2017 (151)
12	SWEGEN	ss2992164628	Nov 08, 2017 (151)
13	MCHAISSO	ss3064043966	Nov 08, 2017 (151)
14	MCHAISSO	ss3064904433	Nov 08, 2017 (151)
15	MCHAISSO	ss3065876412	Nov 08, 2017 (151)
16	EVA_DECODE	ss3709052134	Jul 13, 2019 (153)
17	EVA_DECODE	ss3709052135	Jul 13, 2019 (153)
18	EVA_DECODE	ss3709052136	Jul 13, 2019 (153)
19	PACBIO	ss3789810075	Jul 13, 2019 (153)
20	PACBIO	ss3794683889	Jul 13, 2019 (153)
21	EVA	ss3827766755	Apr 25, 2020 (154)
22	GNOMAD	ss4069425630	Apr 26, 2021 (155)
23	GNOMAD	ss4069425631	Apr 26, 2021 (155)
24	GNOMAD	ss4069425632	Apr 26, 2021 (155)
25	GNOMAD	ss4069425633	Apr 26, 2021 (155)
26	GNOMAD	ss4069425634	Apr 26, 2021 (155)
27	GNOMAD	ss4069425635	Apr 26, 2021 (155)
28	GNOMAD	ss4069425636	Apr 26, 2021 (155)
29	GNOMAD	ss4069425637	Apr 26, 2021 (155)
30	GNOMAD	ss4069425638	Apr 26, 2021 (155)
31	GNOMAD	ss4069425640	Apr 26, 2021 (155)
32	GNOMAD	ss4069425641	Apr 26, 2021 (155)
33	GNOMAD	ss4069425642	Apr 26, 2021 (155)
34	GNOMAD	ss4069425643	Apr 26, 2021 (155)
35	GNOMAD	ss4069425644	Apr 26, 2021 (155)
36	GNOMAD	ss4069425645	Apr 26, 2021 (155)
37	GNOMAD	ss4069425646	Apr 26, 2021 (155)
38	GNOMAD	ss4069425647	Apr 26, 2021 (155)
39	GNOMAD	ss4069425648	Apr 26, 2021 (155)
40	GNOMAD	ss4069425649	Apr 26, 2021 (155)
41	GNOMAD	ss4069425650	Apr 26, 2021 (155)
42	TOPMED	ss4561412225	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5158729712	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5158729713	Apr 26, 2021 (155)
45	TOMMO_GENOMICS	ss5158729714	Apr 26, 2021 (155)
46	1000G_HIGH_COVERAGE	ss5253769454	Oct 13, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5253769455	Oct 13, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5253769456	Oct 13, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5253769457	Oct 13, 2022 (156)
50	1000G_HIGH_COVERAGE	ss5253769458	Oct 13, 2022 (156)
51	HUGCELL_USP	ss5453196355	Oct 13, 2022 (156)
52	HUGCELL_USP	ss5453196356	Oct 13, 2022 (156)
53	TOMMO_GENOMICS	ss5690258006	Oct 13, 2022 (156)
54	TOMMO_GENOMICS	ss5690258007	Oct 13, 2022 (156)
55	TOMMO_GENOMICS	ss5690258008	Oct 13, 2022 (156)
56	EVA	ss5825631759	Oct 13, 2022 (156)
57	EVA	ss5825631760	Oct 13, 2022 (156)
58	EVA	ss5825631761	Oct 13, 2022 (156)
59	EVA	ss5853578458	Oct 13, 2022 (156)
60	EVA	ss5960241790	Oct 13, 2022 (156)
61	The Avon Longitudinal Study of Parents and Children	NC_000003.11 - 39568265	Oct 12, 2018 (152)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 105049567 (NC_000003.12:39526773::T 77892/100428) Row 105049568 (NC_000003.12:39526773::TT 13120/100418) Row 105049569 (NC_000003.12:39526773::TTT 166/100432)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 105049567 (NC_000003.12:39526773::T 77892/100428) Row 105049568 (NC_000003.12:39526773::TT 13120/100418) Row 105049569 (NC_000003.12:39526773::TTT 166/100432)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 105049567 (NC_000003.12:39526773::T 77892/100428) Row 105049568 (NC_000003.12:39526773::TT 13120/100418) Row 105049569 (NC_000003.12:39526773::TTT 166/100432)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 105049567 (NC_000003.12:39526773::T 77892/100428) Row 105049568 (NC_000003.12:39526773::TT 13120/100418) Row 105049569 (NC_000003.12:39526773::TTT 166/100432)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 105049567 (NC_000003.12:39526773::T 77892/100428) Row 105049568 (NC_000003.12:39526773::TT 13120/100418) Row 105049569 (NC_000003.12:39526773::TTT 166/100432)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 105049567 (NC_000003.12:39526773::T 77892/100428) Row 105049568 (NC_000003.12:39526773::TT 13120/100418) Row 105049569 (NC_000003.12:39526773::TTT 166/100432)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 105049567 (NC_000003.12:39526773::T 77892/100428) Row 105049568 (NC_000003.12:39526773::TT 13120/100418) Row 105049569 (NC_000003.12:39526773::TTT 166/100432)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 105049567 (NC_000003.12:39526773::T 77892/100428) Row 105049568 (NC_000003.12:39526773::TT 13120/100418) Row 105049569 (NC_000003.12:39526773::TTT 166/100432)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 105049567 (NC_000003.12:39526773::T 77892/100428) Row 105049568 (NC_000003.12:39526773::TT 13120/100418) Row 105049569 (NC_000003.12:39526773::TTT 166/100432)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 105049567 (NC_000003.12:39526773::T 77892/100428) Row 105049568 (NC_000003.12:39526773::TT 13120/100418) Row 105049569 (NC_000003.12:39526773::TTT 166/100432)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 105049567 (NC_000003.12:39526773::T 77892/100428) Row 105049568 (NC_000003.12:39526773::TT 13120/100418) Row 105049569 (NC_000003.12:39526773::TTT 166/100432)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 105049567 (NC_000003.12:39526773::T 77892/100428) Row 105049568 (NC_000003.12:39526773::TT 13120/100418) Row 105049569 (NC_000003.12:39526773::TTT 166/100432)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 105049567 (NC_000003.12:39526773::T 77892/100428) Row 105049568 (NC_000003.12:39526773::TT 13120/100418) Row 105049569 (NC_000003.12:39526773::TTT 166/100432)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 105049567 (NC_000003.12:39526773::T 77892/100428) Row 105049568 (NC_000003.12:39526773::TT 13120/100418) Row 105049569 (NC_000003.12:39526773::TTT 166/100432)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 105049567 (NC_000003.12:39526773::T 77892/100428) Row 105049568 (NC_000003.12:39526773::TT 13120/100418) Row 105049569 (NC_000003.12:39526773::TTT 166/100432)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 105049567 (NC_000003.12:39526773::T 77892/100428) Row 105049568 (NC_000003.12:39526773::TT 13120/100418) Row 105049569 (NC_000003.12:39526773::TTT 166/100432)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 105049567 (NC_000003.12:39526773::T 77892/100428) Row 105049568 (NC_000003.12:39526773::TT 13120/100418) Row 105049569 (NC_000003.12:39526773::TTT 166/100432)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 105049567 (NC_000003.12:39526773::T 77892/100428) Row 105049568 (NC_000003.12:39526773::TT 13120/100418) Row 105049569 (NC_000003.12:39526773::TTT 166/100432)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 105049567 (NC_000003.12:39526773::T 77892/100428) Row 105049568 (NC_000003.12:39526773::TT 13120/100418) Row 105049569 (NC_000003.12:39526773::TTT 166/100432)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 105049567 (NC_000003.12:39526773::T 77892/100428) Row 105049568 (NC_000003.12:39526773::TT 13120/100418) Row 105049569 (NC_000003.12:39526773::TTT 166/100432)...	-	Apr 26, 2021 (155)
82	8.3KJPN Submission ignored due to conflicting rows: Row 16699019 (NC_000003.11:39568264::T 12056/16232) Row 16699020 (NC_000003.11:39568264::TT 189/16232) Row 16699021 (NC_000003.11:39568264::TTTTT 6/16232)	-	Apr 26, 2021 (155)
83	8.3KJPN Submission ignored due to conflicting rows: Row 16699019 (NC_000003.11:39568264::T 12056/16232) Row 16699020 (NC_000003.11:39568264::TT 189/16232) Row 16699021 (NC_000003.11:39568264::TTTTT 6/16232)	-	Apr 26, 2021 (155)
84	8.3KJPN Submission ignored due to conflicting rows: Row 16699019 (NC_000003.11:39568264::T 12056/16232) Row 16699020 (NC_000003.11:39568264::TT 189/16232) Row 16699021 (NC_000003.11:39568264::TTTTT 6/16232)	-	Apr 26, 2021 (155)
85	14KJPN Submission ignored due to conflicting rows: Row 24095110 (NC_000003.12:39526773::T 22469/28156) Row 24095111 (NC_000003.12:39526773::TT 310/28156) Row 24095112 (NC_000003.12:39526773::TTTTT 8/28156)	-	Oct 13, 2022 (156)
86	14KJPN Submission ignored due to conflicting rows: Row 24095110 (NC_000003.12:39526773::T 22469/28156) Row 24095111 (NC_000003.12:39526773::TT 310/28156) Row 24095112 (NC_000003.12:39526773::TTTTT 8/28156)	-	Oct 13, 2022 (156)
87	14KJPN Submission ignored due to conflicting rows: Row 24095110 (NC_000003.12:39526773::T 22469/28156) Row 24095111 (NC_000003.12:39526773::TT 310/28156) Row 24095112 (NC_000003.12:39526773::TTTTT 8/28156)	-	Oct 13, 2022 (156)
88	TopMed	NC_000003.12 - 39526774	Apr 26, 2021 (155)
89	UK 10K study - Twins	NC_000003.11 - 39568265	Oct 12, 2018 (152)
90	ALFA	NC_000003.12 - 39526774	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)
rs33997416	Jul 01, 2015 (144)
rs34663248	Oct 15, 2006 (127)
rs72051110	Oct 11, 2011 (135)
rs144206945	Jul 30, 2012 (137)
rs148721187	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
398789780, ss4069425650, ss4561412225	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTT:	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTT	(self)
1548884958	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTT	(self)
ss4069425649	NC_000003.12:39526773:TTTTTTTTTTT:	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
1548884958	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
ss4069425648, ss5253769458	NC_000003.12:39526773:TTTTTTTTTT:	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
1548884958	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4069425647	NC_000003.12:39526773:TTTTTTTTT:	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
1548884958	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4069425646	NC_000003.12:39526773:TTTTTTTT:	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4069425645	NC_000003.12:39526773:TTTTTT:	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
1548884958	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4069425644	NC_000003.12:39526773:TTTTT:	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
1548884958	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4069425643	NC_000003.12:39526773:TTTT:	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
1548884958	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4069425642	NC_000003.12:39526773:TTT:	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
1548884958	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4069425641, ss5253769457	NC_000003.12:39526773:TT:	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
1548884958	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3709052134, ss4069425640, ss5253769456	NC_000003.12:39526773:T:	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
1548884958	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss295096217	NC_000003.10:39543288::T	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
8231373, 8231373, ss1703591893, ss1703591894, ss2992164627, ss3789810075, ss3794683889, ss3827766755, ss5158729712, ss5825631760, ss5960241790	NC_000003.11:39568264::T	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3064043966, ss3064904433, ss3065876412, ss4069425630, ss5253769454, ss5453196355, ss5690258006, ss5853578458	NC_000003.12:39526773::T	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
1548884958	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3709052135	NC_000003.12:39526774::T	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss42028352, ss42091643	NT_022517.18:39508264::T	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss295096216	NC_000003.10:39543287::TT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss666203811, ss2992164628, ss5158729713, ss5825631759	NC_000003.11:39568264::TT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4069425631, ss5253769455, ss5453196356, ss5690258007	NC_000003.12:39526773::TT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
1548884958	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3709052136	NC_000003.12:39526774::TT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss77887264, ss77893363, ss95315024	NT_022517.18:39508284::TT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss5825631761	NC_000003.11:39568264::TTT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
ss4069425632	NC_000003.12:39526773::TTT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
1548884958	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4069425633	NC_000003.12:39526773::TTTT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
1548884958	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5158729714	NC_000003.11:39568264::TTTTT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4069425634, ss5690258008	NC_000003.12:39526773::TTTTT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
1548884958	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4069425635	NC_000003.12:39526773::TTTTTT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
1548884958	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4069425636	NC_000003.12:39526773::TTTTTTT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
1548884958	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4069425637	NC_000003.12:39526773::TTTTTTTT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4069425638	NC_000003.12:39526773::TTTTTTTTTTT… NC_000003.12:39526773::TTTTTTTTTTTTTTT	NC_000003.12:39526773:TTTTTTTTTTTT… NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs5848517

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

rs5848517