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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.

rs571095

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:94104598 (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 / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.109041 (28862/264690, TOPMED)
G=0.104741 (14684/140194, GnomAD)
G=0.07192 (2218/30840, ALFA) (+ 16 more)
G=0.13969 (3947/28256, 14KJPN)
G=0.14218 (2383/16760, 8.3KJPN)
G=0.1207 (773/6404, 1000G_30x)
G=0.1184 (593/5008, 1000G)
G=0.0507 (227/4480, Estonian)
G=0.0581 (224/3854, ALSPAC)
G=0.0561 (208/3708, TWINSUK)
G=0.1358 (398/2930, KOREAN)
G=0.1283 (235/1832, Korea1K)
G=0.041 (41/998, GoNL)
G=0.070 (42/600, NorthernSweden)
G=0.091 (49/538, SGDP_PRJ)
G=0.042 (9/216, Qatari)
G=0.213 (46/216, Vietnamese)
G=0.11 (6/54, Siberian)
G=0.07 (3/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ABCA4 : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 30840 G=0.07192 A=0.92808
European Sub 24712 G=0.05435 A=0.94565
African Sub 3168 G=0.2071 A=0.7929
African Others Sub 124 G=0.185 A=0.815
African American Sub 3044 G=0.2080 A=0.7920
Asian Sub 128 G=0.102 A=0.898
East Asian Sub 100 G=0.13 A=0.87
Other Asian Sub 28 G=0.00 A=1.00
Latin American 1 Sub 168 G=0.101 A=0.899
Latin American 2 Sub 700 G=0.099 A=0.901
South Asian Sub 114 G=0.053 A=0.947
Other Sub 1850 G=0.0616 A=0.9384


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=0.109041 A=0.890959
gnomAD - Genomes Global Study-wide 140194 G=0.104741 A=0.895259
gnomAD - Genomes European Sub 75954 G=0.05480 A=0.94520
gnomAD - Genomes African Sub 41976 G=0.20919 A=0.79081
gnomAD - Genomes American Sub 13660 G=0.07460 A=0.92540
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.0217 A=0.9783
gnomAD - Genomes East Asian Sub 3130 G=0.1479 A=0.8521
gnomAD - Genomes Other Sub 2152 G=0.0869 A=0.9131
Allele Frequency Aggregator Total Global 30840 G=0.07192 A=0.92808
Allele Frequency Aggregator European Sub 24712 G=0.05435 A=0.94565
Allele Frequency Aggregator African Sub 3168 G=0.2071 A=0.7929
Allele Frequency Aggregator Other Sub 1850 G=0.0616 A=0.9384
Allele Frequency Aggregator Latin American 2 Sub 700 G=0.099 A=0.901
Allele Frequency Aggregator Latin American 1 Sub 168 G=0.101 A=0.899
Allele Frequency Aggregator Asian Sub 128 G=0.102 A=0.898
Allele Frequency Aggregator South Asian Sub 114 G=0.053 A=0.947
14KJPN JAPANESE Study-wide 28256 G=0.13969 A=0.86031
8.3KJPN JAPANESE Study-wide 16760 G=0.14218 A=0.85782
1000Genomes_30x Global Study-wide 6404 G=0.1207 A=0.8793
1000Genomes_30x African Sub 1786 G=0.2385 A=0.7615
1000Genomes_30x Europe Sub 1266 G=0.0513 A=0.9487
1000Genomes_30x South Asian Sub 1202 G=0.0283 A=0.9717
1000Genomes_30x East Asian Sub 1170 G=0.1658 A=0.8342
1000Genomes_30x American Sub 980 G=0.055 A=0.945
1000Genomes Global Study-wide 5008 G=0.1184 A=0.8816
1000Genomes African Sub 1322 G=0.2413 A=0.7587
1000Genomes East Asian Sub 1008 G=0.1617 A=0.8383
1000Genomes Europe Sub 1006 G=0.0497 A=0.9503
1000Genomes South Asian Sub 978 G=0.026 A=0.974
1000Genomes American Sub 694 G=0.052 A=0.948
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.0507 A=0.9493
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.0581 A=0.9419
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.0561 A=0.9439
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.1358 A=0.8642, C=0.0000
Korean Genome Project KOREAN Study-wide 1832 G=0.1283 A=0.8717
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.041 A=0.959
Northern Sweden ACPOP Study-wide 600 G=0.070 A=0.930
SGDP_PRJ Global Study-wide 538 G=0.091 A=0.909
Qatari Global Study-wide 216 G=0.042 A=0.958
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.213 A=0.787
Siberian Global Study-wide 54 G=0.11 A=0.89
The Danish reference pan genome Danish Study-wide 40 G=0.07 A=0.93
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 1 NC_000001.11:g.94104598G>A
GRCh38.p14 chr 1 NC_000001.11:g.94104598G>C
GRCh37.p13 chr 1 NC_000001.10:g.94570154G>A
GRCh37.p13 chr 1 NC_000001.10:g.94570154G>C
ABCA4 RefSeqGene NG_009073.1:g.21552C>T
ABCA4 RefSeqGene NG_009073.1:g.21552C>G
Gene: ABCA4, ATP binding cassette subfamily A member 4 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ABCA4 transcript variant 1 NM_000350.3:c.443-1456C>T N/A Intron Variant
ABCA4 transcript variant X1 XM_047416704.1:c.443-1456…

XM_047416704.1:c.443-1456C>T

 		N/A Intron 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.

Not Reported in ClinVar
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 C
GRCh38.p14 chr 1 NC_000001.11:g.94104598= NC_000001.11:g.94104598G>A NC_000001.11:g.94104598G>C
GRCh37.p13 chr 1 NC_000001.10:g.94570154= NC_000001.10:g.94570154G>A NC_000001.10:g.94570154G>C
ABCA4 RefSeqGene NG_009073.1:g.21552= NG_009073.1:g.21552C>T NG_009073.1:g.21552C>G
ABCA4 transcript NM_000350.2:c.443-1456= NM_000350.2:c.443-1456C>T NM_000350.2:c.443-1456C>G
ABCA4 transcript variant 1 NM_000350.3:c.443-1456= NM_000350.3:c.443-1456C>T NM_000350.3:c.443-1456C>G
ABCA4 transcript variant X1 XM_047416704.1:c.443-1456= XM_047416704.1:c.443-1456C>T XM_047416704.1:c.443-1456C>G
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#.

95 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss742418 Aug 11, 2000 (83)
2 KWOK ss1676608 Oct 18, 2000 (87)
3 SC_JCM ss2615471 Nov 08, 2000 (89)
4 SC_JCM ss3935109 Sep 28, 2001 (100)
5 YUSUKE ss4975796 Aug 28, 2002 (108)
6 CSHL-HAPMAP ss16388559 Feb 27, 2004 (120)
7 CSHL-HAPMAP ss19098601 Feb 27, 2004 (120)
8 SSAHASNP ss20470375 Apr 05, 2004 (121)
9 HGSV ss77801084 Dec 07, 2007 (129)
10 HGSV ss81010041 Dec 15, 2007 (130)
11 HGSV ss84333263 Dec 15, 2007 (130)
12 HGSV ss85160004 Dec 15, 2007 (130)
13 HGSV ss85935171 Dec 15, 2007 (130)
14 BCMHGSC_JDW ss87633212 Mar 23, 2008 (129)
15 HUMANGENOME_JCVI ss97958741 Feb 05, 2009 (130)
16 BGI ss102764037 Dec 01, 2009 (131)
17 1000GENOMES ss108422293 Jan 23, 2009 (130)
18 1000GENOMES ss110839399 Jan 25, 2009 (130)
19 ILLUMINA-UK ss118897064 Feb 14, 2009 (130)
20 ENSEMBL ss138038930 Dec 01, 2009 (131)
21 ENSEMBL ss138853649 Dec 01, 2009 (131)
22 GMI ss155363364 Dec 01, 2009 (131)
23 COMPLETE_GENOMICS ss163679301 Jul 04, 2010 (132)
24 COMPLETE_GENOMICS ss164804069 Jul 04, 2010 (132)
25 COMPLETE_GENOMICS ss166860021 Jul 04, 2010 (132)
26 BUSHMAN ss198789995 Jul 04, 2010 (132)
27 BCM-HGSC-SUB ss205235012 Jul 04, 2010 (132)
28 1000GENOMES ss218529809 Jul 14, 2010 (132)
29 1000GENOMES ss230641874 Jul 14, 2010 (132)
30 1000GENOMES ss238312587 Jul 15, 2010 (132)
31 BL ss253288296 May 09, 2011 (134)
32 GMI ss275931469 May 04, 2012 (137)
33 GMI ss284099235 Apr 25, 2013 (138)
34 PJP ss290565878 May 09, 2011 (134)
35 ILLUMINA ss482437251 May 04, 2012 (137)
36 ILLUMINA ss483799232 May 04, 2012 (137)
37 ILLUMINA ss535997165 Sep 08, 2015 (146)
38 TISHKOFF ss554443703 Apr 25, 2013 (138)
39 SSMP ss648228003 Apr 25, 2013 (138)
40 ILLUMINA ss780412763 Sep 08, 2015 (146)
41 ILLUMINA ss782343178 Sep 08, 2015 (146)
42 ILLUMINA ss835901840 Sep 08, 2015 (146)
43 EVA-GONL ss975442678 Aug 21, 2014 (142)
44 JMKIDD_LAB ss1068099083 Aug 21, 2014 (142)
45 1000GENOMES ss1291958302 Aug 21, 2014 (142)
46 DDI ss1425900166 Apr 01, 2015 (144)
47 EVA_GENOME_DK ss1574240266 Apr 01, 2015 (144)
48 EVA_DECODE ss1584819704 Apr 01, 2015 (144)
49 EVA_UK10K_ALSPAC ss1600735063 Apr 01, 2015 (144)
50 EVA_UK10K_TWINSUK ss1643729096 Apr 01, 2015 (144)
51 HAMMER_LAB ss1794757397 Sep 08, 2015 (146)
52 WEILL_CORNELL_DGM ss1918643467 Feb 12, 2016 (147)
53 GENOMED ss1966811459 Jul 19, 2016 (147)
54 JJLAB ss2019843233 Sep 14, 2016 (149)
55 USC_VALOUEV ss2147861476 Dec 20, 2016 (150)
56 HUMAN_LONGEVITY ss2164708996 Dec 20, 2016 (150)
57 SYSTEMSBIOZJU ss2624433122 Nov 08, 2017 (151)
58 ILLUMINA ss2632548899 Nov 08, 2017 (151)
59 GRF ss2697787682 Nov 08, 2017 (151)
60 GNOMAD ss2758203524 Nov 08, 2017 (151)
61 SWEGEN ss2987245886 Nov 08, 2017 (151)
62 BIOINF_KMB_FNS_UNIBA ss3023684588 Nov 08, 2017 (151)
63 CSHL ss3343578548 Nov 08, 2017 (151)
64 ILLUMINA ss3626157099 Oct 11, 2018 (152)
65 ILLUMINA ss3630583270 Oct 11, 2018 (152)
66 ILLUMINA ss3641604236 Oct 11, 2018 (152)
67 URBANLAB ss3646722852 Oct 11, 2018 (152)
68 EGCUT_WGS ss3655325280 Jul 12, 2019 (153)
69 EVA_DECODE ss3687294326 Jul 12, 2019 (153)
70 ACPOP ss3727281200 Jul 12, 2019 (153)
71 EVA ss3746528533 Jul 12, 2019 (153)
72 PACBIO ss3783485950 Jul 12, 2019 (153)
73 PACBIO ss3789132456 Jul 12, 2019 (153)
74 PACBIO ss3794005290 Jul 12, 2019 (153)
75 KHV_HUMAN_GENOMES ss3799531801 Jul 12, 2019 (153)
76 EVA ss3826308170 Apr 25, 2020 (154)
77 EVA ss3836544176 Apr 25, 2020 (154)
78 EVA ss3841951951 Apr 25, 2020 (154)
79 SGDP_PRJ ss3849401757 Apr 25, 2020 (154)
80 KRGDB ss3894470945 Apr 25, 2020 (154)
81 KOGIC ss3945022045 Apr 25, 2020 (154)
82 TOPMED ss4459315603 Apr 25, 2021 (155)
83 TOMMO_GENOMICS ss5145145328 Apr 25, 2021 (155)
84 1000G_HIGH_COVERAGE ss5243194329 Oct 12, 2022 (156)
85 EVA ss5314635249 Oct 12, 2022 (156)
86 EVA ss5320430990 Oct 12, 2022 (156)
87 HUGCELL_USP ss5444158632 Oct 12, 2022 (156)
88 1000G_HIGH_COVERAGE ss5515963384 Oct 12, 2022 (156)
89 SANFORD_IMAGENETICS ss5626060032 Oct 12, 2022 (156)
90 TOMMO_GENOMICS ss5670258032 Oct 12, 2022 (156)
91 YY_MCH ss5800828451 Oct 12, 2022 (156)
92 EVA ss5832321182 Oct 12, 2022 (156)
93 EVA ss5849018373 Oct 12, 2022 (156)
94 EVA ss5909324252 Oct 12, 2022 (156)
95 EVA ss5937915211 Oct 12, 2022 (156)
96 1000Genomes NC_000001.10 - 94570154 Oct 11, 2018 (152)
97 1000Genomes_30x NC_000001.11 - 94104598 Oct 12, 2022 (156)
98 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 94570154 Oct 11, 2018 (152)
99 Genetic variation in the Estonian population NC_000001.10 - 94570154 Oct 11, 2018 (152)
100 The Danish reference pan genome NC_000001.10 - 94570154 Apr 25, 2020 (154)
101 gnomAD - Genomes NC_000001.11 - 94104598 Apr 25, 2021 (155)
102 Genome of the Netherlands Release 5 NC_000001.10 - 94570154 Apr 25, 2020 (154)
103 KOREAN population from KRGDB NC_000001.10 - 94570154 Apr 25, 2020 (154)
104 Korean Genome Project NC_000001.11 - 94104598 Apr 25, 2020 (154)
105 Northern Sweden NC_000001.10 - 94570154 Jul 12, 2019 (153)
106 Qatari NC_000001.10 - 94570154 Apr 25, 2020 (154)
107 SGDP_PRJ NC_000001.10 - 94570154 Apr 25, 2020 (154)
108 Siberian NC_000001.10 - 94570154 Apr 25, 2020 (154)
109 8.3KJPN NC_000001.10 - 94570154 Apr 25, 2021 (155)
110 14KJPN NC_000001.11 - 94104598 Oct 12, 2022 (156)
111 TopMed NC_000001.11 - 94104598 Apr 25, 2021 (155)
112 UK 10K study - Twins NC_000001.10 - 94570154 Oct 11, 2018 (152)
113 A Vietnamese Genetic Variation Database NC_000001.10 - 94570154 Jul 12, 2019 (153)
114 ALFA NC_000001.11 - 94104598 Apr 25, 2021 (155)
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)
rs3789426 Oct 08, 2002 (108)
rs58609712 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77801084, ss81010041, ss84333263, ss85160004, ss85935171 NC_000001.8:94282174:G:A NC_000001.11:94104597:G:A (self)
ss87633212, ss108422293, ss110839399, ss118897064, ss163679301, ss164804069, ss166860021, ss198789995, ss205235012, ss253288296, ss275931469, ss284099235, ss290565878, ss482437251, ss1584819704 NC_000001.9:94342741:G:A NC_000001.11:94104597:G:A (self)
2716757, 1494349, 1063528, 1612817, 647561, 1648339, 566065, 685397, 1418737, 377830, 3114635, 1494349, 320996, ss218529809, ss230641874, ss238312587, ss483799232, ss535997165, ss554443703, ss648228003, ss780412763, ss782343178, ss835901840, ss975442678, ss1068099083, ss1291958302, ss1425900166, ss1574240266, ss1600735063, ss1643729096, ss1794757397, ss1918643467, ss1966811459, ss2019843233, ss2147861476, ss2624433122, ss2632548899, ss2697787682, ss2758203524, ss2987245886, ss3343578548, ss3626157099, ss3630583270, ss3641604236, ss3655325280, ss3727281200, ss3746528533, ss3783485950, ss3789132456, ss3794005290, ss3826308170, ss3836544176, ss3849401757, ss3894470945, ss5145145328, ss5314635249, ss5320430990, ss5626060032, ss5832321182, ss5937915211 NC_000001.10:94570153:G:A NC_000001.11:94104597:G:A (self)
3489319, 19183545, 1400046, 4095136, 22921938, 1575249245, ss2164708996, ss3023684588, ss3646722852, ss3687294326, ss3799531801, ss3841951951, ss3945022045, ss4459315603, ss5243194329, ss5444158632, ss5515963384, ss5670258032, ss5800828451, ss5849018373, ss5909324252 NC_000001.11:94104597:G:A NC_000001.11:94104597:G:A (self)
ss16388559, ss19098601, ss20470375 NT_028050.13:2767975:G:A NC_000001.11:94104597:G:A (self)
ss742418, ss1676608, ss2615471, ss3935109, ss4975796, ss97958741, ss102764037, ss138038930, ss138853649, ss155363364 NT_032977.9:64542071:G:A NC_000001.11:94104597:G:A (self)
1648339, ss3894470945 NC_000001.10:94570153:G:C NC_000001.11:94104597:G:C (self)
Help

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

No publications for rs571095

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.post761+d5e8e07