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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs57467915

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:219216694 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.007650 (2025/264690, TOPMED)
A=0.011886 (2640/222106, ALFA)
A=0.008783 (1807/205742, GnomAD_exome) (+ 17 more)
A=0.009787 (1372/140180, GnomAD)
A=0.00332 (261/78668, PAGE_STUDY)
A=0.01895 (632/33350, ExAC)
A=0.01008 (131/12998, GO-ESP)
A=0.0036 (23/6404, 1000G_30x)
A=0.0038 (19/5008, 1000G)
A=0.0096 (43/4480, Estonian)
A=0.0148 (57/3854, ALSPAC)
A=0.0138 (51/3708, TWINSUK)
A=0.0007 (2/2922, KOREAN)
A=0.015 (15/998, GoNL)
A=0.010 (6/600, NorthernSweden)
A=0.004 (2/534, MGP)
A=0.003 (1/356, PharmGKB)
A=0.05 (2/40, GENOME_DK)
G=0.5 (2/4, SGDP_PRJ)
A=0.5 (2/4, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ABCB6 : Missense Variant
Publications
1 citation
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
Total Global 238516 G=0.988298 A=0.011702
European Sub 202286 G=0.987137 A=0.012863
African Sub 9816 G=0.9974 A=0.0026
African Others Sub 360 G=1.000 A=0.000
African American Sub 9456 G=0.9973 A=0.0027
Asian Sub 6398 G=0.9998 A=0.0002
East Asian Sub 4548 G=0.9998 A=0.0002
Other Asian Sub 1850 G=1.0000 A=0.0000
Latin American 1 Sub 804 G=0.994 A=0.006
Latin American 2 Sub 974 G=0.991 A=0.009
South Asian Sub 280 G=0.996 A=0.004
Other Sub 17958 G=0.99181 A=0.00819


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.992350 A=0.007650
Allele Frequency Aggregator Total Global 222106 G=0.988114 A=0.011886
Allele Frequency Aggregator European Sub 192148 G=0.987088 A=0.012912
Allele Frequency Aggregator Other Sub 16524 G=0.99225 A=0.00775
Allele Frequency Aggregator Asian Sub 6398 G=0.9998 A=0.0002
Allele Frequency Aggregator African Sub 4978 G=0.9970 A=0.0030
Allele Frequency Aggregator Latin American 2 Sub 974 G=0.991 A=0.009
Allele Frequency Aggregator Latin American 1 Sub 804 G=0.994 A=0.006
Allele Frequency Aggregator South Asian Sub 280 G=0.996 A=0.004
gnomAD - Exomes Global Study-wide 205742 G=0.991217 A=0.008783
gnomAD - Exomes European Sub 108018 G=0.985956 A=0.014044
gnomAD - Exomes Asian Sub 41512 G=0.99807 A=0.00193
gnomAD - Exomes American Sub 29462 G=0.99654 A=0.00346
gnomAD - Exomes African Sub 12322 G=0.99732 A=0.00268
gnomAD - Exomes Ashkenazi Jewish Sub 9116 G=0.9957 A=0.0043
gnomAD - Exomes Other Sub 5312 G=0.9932 A=0.0068
gnomAD - Genomes Global Study-wide 140180 G=0.990213 A=0.009787
gnomAD - Genomes European Sub 75916 G=0.98481 A=0.01519
gnomAD - Genomes African Sub 41998 G=0.99729 A=0.00271
gnomAD - Genomes American Sub 13660 G=0.99546 A=0.00454
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.9919 A=0.0081
gnomAD - Genomes East Asian Sub 3134 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2150 G=0.9926 A=0.0074
The PAGE Study Global Study-wide 78668 G=0.99668 A=0.00332
The PAGE Study AfricanAmerican Sub 32494 G=0.99741 A=0.00259
The PAGE Study Mexican Sub 10808 G=0.99426 A=0.00574
The PAGE Study Asian Sub 8318 G=0.9999 A=0.0001
The PAGE Study PuertoRican Sub 7916 G=0.9971 A=0.0029
The PAGE Study NativeHawaiian Sub 4530 G=0.9976 A=0.0024
The PAGE Study Cuban Sub 4228 G=0.9920 A=0.0080
The PAGE Study Dominican Sub 3828 G=0.9969 A=0.0031
The PAGE Study CentralAmerican Sub 2450 G=0.9963 A=0.0037
The PAGE Study SouthAmerican Sub 1982 G=0.9955 A=0.0045
The PAGE Study NativeAmerican Sub 1260 G=0.9889 A=0.0111
The PAGE Study SouthAsian Sub 854 G=0.998 A=0.002
ExAC Global Study-wide 33350 G=0.98105 A=0.01895
ExAC Europe Sub 17722 G=0.96823 A=0.03177
ExAC Asian Sub 10414 G=0.99664 A=0.00336
ExAC African Sub 3600 G=0.9961 A=0.0039
ExAC American Sub 1332 G=0.9895 A=0.0105
ExAC Other Sub 282 G=0.979 A=0.021
GO Exome Sequencing Project Global Study-wide 12998 G=0.98992 A=0.01008
GO Exome Sequencing Project European American Sub 8594 G=0.9867 A=0.0133
GO Exome Sequencing Project African American Sub 4404 G=0.9961 A=0.0039
1000Genomes_30x Global Study-wide 6404 G=0.9964 A=0.0036
1000Genomes_30x African Sub 1786 G=0.9994 A=0.0006
1000Genomes_30x Europe Sub 1266 G=0.9858 A=0.0142
1000Genomes_30x South Asian Sub 1202 G=0.9992 A=0.0008
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=0.997 A=0.003
1000Genomes Global Study-wide 5008 G=0.9962 A=0.0038
1000Genomes African Sub 1322 G=0.9992 A=0.0008
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9851 A=0.0149
1000Genomes South Asian Sub 978 G=0.999 A=0.001
1000Genomes American Sub 694 G=0.997 A=0.003
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9904 A=0.0096
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9852 A=0.0148
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9862 A=0.0138
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9993 A=0.0007
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.985 A=0.015
Northern Sweden ACPOP Study-wide 600 G=0.990 A=0.010
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.996 A=0.004
PharmGKB Aggregated Global Study-wide 356 G=0.997 A=0.003
PharmGKB Aggregated PA148810734 Sub 356 G=0.997 A=0.003
The Danish reference pan genome Danish Study-wide 40 G=0.95 A=0.05
SGDP_PRJ Global Study-wide 4 G=0.5 A=0.5
Help

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.219216694G>A
GRCh37.p13 chr 2 NC_000002.11:g.220081416G>A
LAN blood group RefSeqGene (LRG_824) NG_032110.1:g.7297C>T
Gene: ABCB6, ATP binding cassette subfamily B member 6 (Langereis blood group) (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ABCB6 transcript variant 1 NM_005689.4:c.826C>T R [CGG] > W [TGG] Coding Sequence Variant
ATP-binding cassette sub-family B member 6 isoform 1 NP_005680.1:p.Arg276Trp R (Arg) > W (Trp) Missense Variant
ABCB6 transcript variant 2 NM_001349828.2:c.688C>T R [CGG] > W [TGG] Coding Sequence Variant
ATP-binding cassette sub-family B member 6 isoform 2 NP_001336757.1:p.Arg230Trp R (Arg) > W (Trp) Missense Variant
Help

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.

Allele: A (allele ID: 236978 )
ClinVar Accession Disease Names Clinical Significance
RCV000224725.6 not provided Benign
RCV001731453.1 Acute intermittent porphyria Benign
RCV001731454.1 Hereditary coproporphyria Benign
RCV001731534.1 Protoporphyria, erythropoietic, 1 Benign
RCV001731535.1 Variegate porphyria Benign
Help

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 G= A
GRCh38.p14 chr 2 NC_000002.12:g.219216694= NC_000002.12:g.219216694G>A
GRCh37.p13 chr 2 NC_000002.11:g.220081416= NC_000002.11:g.220081416G>A
LAN blood group RefSeqGene (LRG_824) NG_032110.1:g.7297= NG_032110.1:g.7297C>T
ABCB6 transcript variant 1 NM_005689.4:c.826= NM_005689.4:c.826C>T
ABCB6 transcript variant 1 NM_005689.3:c.826= NM_005689.3:c.826C>T
ABCB6 transcript NM_005689.2:c.826= NM_005689.2:c.826C>T
ABCB6 transcript variant 2 NM_001349828.2:c.688= NM_001349828.2:c.688C>T
ABCB6 transcript variant 2 NM_001349828.1:c.688= NM_001349828.1:c.688C>T
ATP-binding cassette sub-family B member 6 isoform 1 NP_005680.1:p.Arg276= NP_005680.1:p.Arg276Trp
ATP-binding cassette sub-family B member 6 isoform 2 NP_001336757.1:p.Arg230= NP_001336757.1:p.Arg230Trp
Help

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#.

74 SubSNP, 19 Frequency, 5 ClinVar submissions
No Submitter Submission ID Date (Build)
1 PHARMGKB_AB_DME ss84163177 Dec 14, 2007 (129)
2 CORNELL ss86248151 Mar 23, 2008 (130)
3 APPLERA_GI ss95212008 Mar 25, 2008 (130)
4 SNP500CANCER ss105439321 Feb 04, 2009 (130)
5 1000GENOMES ss330322180 May 09, 2011 (134)
6 NHLBI-ESP ss342100293 May 09, 2011 (134)
7 1000GENOMES ss489853116 May 04, 2012 (137)
8 EXOME_CHIP ss491331677 May 04, 2012 (137)
9 CLINSEQ_SNP ss491800521 May 04, 2012 (137)
10 ILLUMINA ss536352208 Sep 08, 2015 (146)
11 ILLUMINA ss780810673 Sep 08, 2015 (146)
12 ILLUMINA ss783492502 Sep 08, 2015 (146)
13 EVA-GONL ss977978001 Aug 21, 2014 (142)
14 1000GENOMES ss1301715645 Aug 21, 2014 (142)
15 EVA_GENOME_DK ss1579329647 Apr 01, 2015 (144)
16 EVA_DECODE ss1587433673 Apr 01, 2015 (144)
17 EVA_UK10K_ALSPAC ss1605831201 Apr 01, 2015 (144)
18 EVA_UK10K_TWINSUK ss1648825234 Apr 01, 2015 (144)
19 EVA_EXAC ss1686743480 Apr 01, 2015 (144)
20 EVA_MGP ss1710997350 Apr 01, 2015 (144)
21 ILLUMINA ss1752339770 Sep 08, 2015 (146)
22 ILLUMINA ss1917760176 Feb 12, 2016 (147)
23 ILLUMINA ss1946067028 Feb 12, 2016 (147)
24 ILLUMINA ss1958506895 Feb 12, 2016 (147)
25 JJLAB ss2021159572 Sep 14, 2016 (149)
26 ILLUMINA ss2094915970 Dec 20, 2016 (150)
27 ILLUMINA ss2095109945 Dec 20, 2016 (150)
28 HUMAN_LONGEVITY ss2239298775 Dec 20, 2016 (150)
29 ILLUMINA ss2633741883 Nov 08, 2017 (151)
30 ILLUMINA ss2710926589 Nov 08, 2017 (151)
31 GNOMAD ss2733344782 Nov 08, 2017 (151)
32 GNOMAD ss2746883650 Nov 08, 2017 (151)
33 GNOMAD ss2786531622 Nov 08, 2017 (151)
34 AFFY ss2985200520 Nov 08, 2017 (151)
35 AFFY ss2985821528 Nov 08, 2017 (151)
36 SWEGEN ss2991386181 Nov 08, 2017 (151)
37 ILLUMINA ss3022071405 Nov 08, 2017 (151)
38 ILLUMINA ss3628290566 Oct 11, 2018 (152)
39 ILLUMINA ss3628290567 Oct 11, 2018 (152)
40 ILLUMINA ss3634813089 Oct 11, 2018 (152)
41 ILLUMINA ss3640520388 Oct 11, 2018 (152)
42 ILLUMINA ss3644769691 Oct 11, 2018 (152)
43 ILLUMINA ss3652522629 Oct 11, 2018 (152)
44 ILLUMINA ss3652522630 Oct 11, 2018 (152)
45 ILLUMINA ss3653968286 Oct 11, 2018 (152)
46 EGCUT_WGS ss3659281496 Jul 13, 2019 (153)
47 EVA_DECODE ss3706057134 Jul 13, 2019 (153)
48 ILLUMINA ss3725874277 Jul 13, 2019 (153)
49 ACPOP ss3729387020 Jul 13, 2019 (153)
50 ILLUMINA ss3744487481 Jul 13, 2019 (153)
51 ILLUMINA ss3745112915 Jul 13, 2019 (153)
52 PAGE_CC ss3770987580 Jul 13, 2019 (153)
53 ILLUMINA ss3772609408 Jul 13, 2019 (153)
54 EVA ss3823857250 Apr 25, 2020 (154)
55 EVA ss3827514723 Apr 25, 2020 (154)
56 SGDP_PRJ ss3854630613 Apr 25, 2020 (154)
57 KRGDB ss3900354161 Apr 25, 2020 (154)
58 EVA ss3986215717 Apr 26, 2021 (155)
59 TOPMED ss4545267702 Apr 26, 2021 (155)
60 EVA ss5237638099 Oct 12, 2022 (156)
61 1000G_HIGH_COVERAGE ss5252094247 Oct 12, 2022 (156)
62 EVA ss5336151166 Oct 12, 2022 (156)
63 HUGCELL_USP ss5451699251 Oct 12, 2022 (156)
64 PHILLIPSLABUTAH ss5505748208 Oct 12, 2022 (156)
65 1000G_HIGH_COVERAGE ss5529473418 Oct 12, 2022 (156)
66 EVA ss5624108328 Oct 12, 2022 (156)
67 SANFORD_IMAGENETICS ss5624472312 Oct 12, 2022 (156)
68 SANFORD_IMAGENETICS ss5630987295 Oct 12, 2022 (156)
69 EVA ss5821615585 Oct 12, 2022 (156)
70 EVA ss5847903661 Oct 12, 2022 (156)
71 EVA ss5848535569 Oct 12, 2022 (156)
72 EVA ss5934778070 Oct 12, 2022 (156)
73 EVA ss5957244767 Oct 12, 2022 (156)
74 EVA ss5979600398 Oct 12, 2022 (156)
75 1000Genomes NC_000002.11 - 220081416 Oct 11, 2018 (152)
76 1000Genomes_30x NC_000002.12 - 219216694 Oct 12, 2022 (156)
77 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 220081416 Oct 11, 2018 (152)
78 Genetic variation in the Estonian population NC_000002.11 - 220081416 Oct 11, 2018 (152)
79 ExAC NC_000002.11 - 220081416 Oct 11, 2018 (152)
80 The Danish reference pan genome NC_000002.11 - 220081416 Apr 25, 2020 (154)
81 gnomAD - Genomes NC_000002.12 - 219216694 Apr 26, 2021 (155)
82 gnomAD - Exomes NC_000002.11 - 220081416 Jul 13, 2019 (153)
83 GO Exome Sequencing Project NC_000002.11 - 220081416 Oct 11, 2018 (152)
84 Genome of the Netherlands Release 5 NC_000002.11 - 220081416 Apr 25, 2020 (154)
85 KOREAN population from KRGDB NC_000002.11 - 220081416 Apr 25, 2020 (154)
86 Medical Genome Project healthy controls from Spanish population NC_000002.11 - 220081416 Apr 25, 2020 (154)
87 Northern Sweden NC_000002.11 - 220081416 Jul 13, 2019 (153)
88 The PAGE Study NC_000002.12 - 219216694 Jul 13, 2019 (153)
89 PharmGKB Aggregated NC_000002.12 - 219216694 Apr 25, 2020 (154)
90 SGDP_PRJ NC_000002.11 - 220081416 Apr 25, 2020 (154)
91 TopMed NC_000002.12 - 219216694 Apr 26, 2021 (155)
92 UK 10K study - Twins NC_000002.11 - 220081416 Oct 11, 2018 (152)
93 ALFA NC_000002.12 - 219216694 Apr 26, 2021 (155)
94 ClinVar RCV000224725.6 Oct 12, 2022 (156)
95 ClinVar RCV001731453.1 Oct 12, 2022 (156)
96 ClinVar RCV001731454.1 Oct 12, 2022 (156)
97 ClinVar RCV001731534.1 Oct 12, 2022 (156)
98 ClinVar RCV001731535.1 Oct 12, 2022 (156)
Help

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)
rs61733625 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss491800521, ss1587433673, ss2094915970 NC_000002.10:219789659:G:A NC_000002.12:219216693:G:A (self)
12823445, 7093229, 5019744, 6648612, 5494586, 2412039, 315653, 3109801, 7531555, 113889, 2671885, 6647593, 7093229, ss330322180, ss342100293, ss489853116, ss491331677, ss536352208, ss780810673, ss783492502, ss977978001, ss1301715645, ss1579329647, ss1605831201, ss1648825234, ss1686743480, ss1710997350, ss1752339770, ss1917760176, ss1946067028, ss1958506895, ss2021159572, ss2095109945, ss2633741883, ss2710926589, ss2733344782, ss2746883650, ss2786531622, ss2985200520, ss2985821528, ss2991386181, ss3022071405, ss3628290566, ss3628290567, ss3634813089, ss3640520388, ss3644769691, ss3652522629, ss3652522630, ss3653968286, ss3659281496, ss3729387020, ss3744487481, ss3745112915, ss3772609408, ss3823857250, ss3827514723, ss3854630613, ss3900354161, ss3986215717, ss5336151166, ss5505748208, ss5624108328, ss5624472312, ss5630987295, ss5821615585, ss5847903661, ss5848535569, ss5957244767, ss5979600398 NC_000002.11:220081415:G:A NC_000002.12:219216693:G:A (self)
RCV000224725.6, RCV001731453.1, RCV001731454.1, RCV001731534.1, RCV001731535.1, 16999353, 91445485, 209049, 6621, 349090581, 10741158713, ss2239298775, ss3706057134, ss3725874277, ss3770987580, ss4545267702, ss5237638099, ss5252094247, ss5451699251, ss5529473418, ss5934778070 NC_000002.12:219216693:G:A NC_000002.12:219216693:G:A (self)
ss84163177, ss86248151, ss95212008, ss105439321 NT_005403.17:70290833:G:A NC_000002.12:219216693:G:A (self)
Help

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

1 citation for rs57467915
PMID Title Author Year Journal
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
Help

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.

Software version is: 2.0.1.post774+babeb33