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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.

rs8106481

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:55756438 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.432990 (114608/264690, TOPMED)
T=0.435287 (60773/139616, GnomAD)
T=0.33329 (9418/28258, 14KJPN) (+ 14 more)
T=0.33073 (5543/16760, 8.3KJPN)
T=0.23449 (2782/11864, ALFA)
T=0.4243 (2717/6404, 1000G_30x)
T=0.4257 (2132/5008, 1000G)
T=0.3822 (1473/3854, ALSPAC)
T=0.3595 (1333/3708, TWINSUK)
T=0.3007 (881/2930, KOREAN)
T=0.387 (386/998, GoNL)
T=0.292 (175/600, NorthernSweden)
T=0.106 (32/302, HapMap)
G=0.338 (88/260, SGDP_PRJ)
T=0.273 (59/216, Qatari)
T=0.35 (14/40, GENOME_DK)
G=0.44 (8/18, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RFPL4A : 2KB Upstream 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 11864 G=0.76551 A=0.00000, T=0.23449
European Sub 9948 G=0.7727 A=0.0000, T=0.2273
African Sub 908 G=0.604 A=0.000, T=0.396
African Others Sub 16 G=0.62 A=0.00, T=0.38
African American Sub 892 G=0.603 A=0.000, T=0.397
Asian Sub 80 G=0.81 A=0.00, T=0.19
East Asian Sub 70 G=0.80 A=0.00, T=0.20
Other Asian Sub 10 G=0.9 A=0.0, T=0.1
Latin American 1 Sub 54 G=1.00 A=0.00, T=0.00
Latin American 2 Sub 326 G=1.000 A=0.000, T=0.000
South Asian Sub 56 G=0.93 A=0.00, T=0.07
Other Sub 492 G=0.711 A=0.000, T=0.289


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=0.567010 T=0.432990
gnomAD - Genomes Global Study-wide 139616 G=0.564713 T=0.435287
gnomAD - Genomes European Sub 75686 G=0.64746 T=0.35254
gnomAD - Genomes African Sub 41728 G=0.34411 T=0.65589
gnomAD - Genomes American Sub 13612 G=0.71562 T=0.28438
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.7203 T=0.2797
gnomAD - Genomes East Asian Sub 3124 G=0.6623 T=0.3377
gnomAD - Genomes Other Sub 2144 G=0.5956 T=0.4044
14KJPN JAPANESE Study-wide 28258 G=0.66671 T=0.33329
8.3KJPN JAPANESE Study-wide 16760 G=0.66927 T=0.33073
Allele Frequency Aggregator Total Global 11864 G=0.76551 A=0.00000, T=0.23449
Allele Frequency Aggregator European Sub 9948 G=0.7727 A=0.0000, T=0.2273
Allele Frequency Aggregator African Sub 908 G=0.604 A=0.000, T=0.396
Allele Frequency Aggregator Other Sub 492 G=0.711 A=0.000, T=0.289
Allele Frequency Aggregator Latin American 2 Sub 326 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 80 G=0.81 A=0.00, T=0.19
Allele Frequency Aggregator South Asian Sub 56 G=0.93 A=0.00, T=0.07
Allele Frequency Aggregator Latin American 1 Sub 54 G=1.00 A=0.00, T=0.00
1000Genomes_30x Global Study-wide 6404 G=0.5757 T=0.4243
1000Genomes_30x African Sub 1786 G=0.3007 T=0.6993
1000Genomes_30x Europe Sub 1266 G=0.6833 T=0.3167
1000Genomes_30x South Asian Sub 1202 G=0.7013 T=0.2987
1000Genomes_30x East Asian Sub 1170 G=0.6265 T=0.3735
1000Genomes_30x American Sub 980 G=0.723 T=0.277
1000Genomes Global Study-wide 5008 G=0.5743 T=0.4257
1000Genomes African Sub 1322 G=0.2927 T=0.7073
1000Genomes East Asian Sub 1008 G=0.6230 T=0.3770
1000Genomes Europe Sub 1006 G=0.6750 T=0.3250
1000Genomes South Asian Sub 978 G=0.704 T=0.296
1000Genomes American Sub 694 G=0.710 T=0.290
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.6178 T=0.3822
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.6405 T=0.3595
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.6993 T=0.3007
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.613 T=0.387
Northern Sweden ACPOP Study-wide 600 G=0.708 T=0.292
HapMap Global Study-wide 302 G=0.894 T=0.106
HapMap American Sub 112 G=0.955 T=0.045
HapMap African Sub 104 G=0.750 T=0.250
HapMap Asian Sub 86 G=0.99 T=0.01
SGDP_PRJ Global Study-wide 260 G=0.338 T=0.662
Qatari Global Study-wide 216 G=0.727 T=0.273
The Danish reference pan genome Danish Study-wide 40 G=0.65 T=0.35
Siberian Global Study-wide 18 G=0.44 T=0.56
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 19 NC_000019.10:g.55756438G>A
GRCh38.p14 chr 19 NC_000019.10:g.55756438G>T
GRCh37.p13 chr 19 NC_000019.9:g.56267804G>A
GRCh37.p13 chr 19 NC_000019.9:g.56267804G>T
Gene: RFPL4A, ret finger protein like 4A (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
RFPL4A transcript NM_001145014.2:c. N/A N/A
RFPL4A transcript variant X1 XM_011526915.4:c. N/A Upstream Transcript 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 T
GRCh38.p14 chr 19 NC_000019.10:g.55756438= NC_000019.10:g.55756438G>A NC_000019.10:g.55756438G>T
GRCh37.p13 chr 19 NC_000019.9:g.56267804= NC_000019.9:g.56267804G>A NC_000019.9:g.56267804G>T
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#.

66 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12461188 Jul 11, 2003 (116)
2 BCM_SSAHASNP ss14708967 Dec 05, 2003 (119)
3 SSAHASNP ss21554889 Apr 05, 2004 (121)
4 ABI ss41031795 Mar 14, 2006 (126)
5 AFFY ss66036945 Nov 30, 2006 (142)
6 KRIBB_YJKIM ss82549996 Dec 15, 2007 (130)
7 HGSV ss84267315 Dec 14, 2007 (130)
8 HUMANGENOME_JCVI ss96316649 Feb 04, 2009 (130)
9 ILLUMINA-UK ss117746922 Feb 14, 2009 (130)
10 ENSEMBL ss136233240 Dec 01, 2009 (131)
11 BUSHMAN ss203796290 Jul 04, 2010 (132)
12 BCM-HGSC-SUB ss208496218 Jul 04, 2010 (132)
13 BL ss255776557 May 09, 2011 (134)
14 GMI ss283259482 May 04, 2012 (137)
15 PJP ss292200325 May 09, 2011 (134)
16 1000GENOMES ss340551981 May 09, 2011 (134)
17 TISHKOFF ss566066968 Apr 25, 2013 (138)
18 SSMP ss661937642 Apr 25, 2013 (138)
19 EVA-GONL ss994432746 Aug 21, 2014 (142)
20 JMKIDD_LAB ss1081993029 Aug 21, 2014 (142)
21 1000GENOMES ss1363676329 Aug 21, 2014 (142)
22 DDI ss1428443456 Apr 01, 2015 (144)
23 EVA_GENOME_DK ss1578691621 Apr 01, 2015 (144)
24 EVA_UK10K_ALSPAC ss1638204412 Apr 01, 2015 (144)
25 EVA_UK10K_TWINSUK ss1681198445 Apr 01, 2015 (144)
26 EVA_DECODE ss1698486174 Apr 01, 2015 (144)
27 HAMMER_LAB ss1809371995 Sep 08, 2015 (146)
28 WEILL_CORNELL_DGM ss1937939868 Feb 12, 2016 (147)
29 ILLUMINA ss1959885903 Feb 12, 2016 (147)
30 JJLAB ss2029744267 Sep 14, 2016 (149)
31 USC_VALOUEV ss2158298221 Dec 20, 2016 (150)
32 GRF ss2702914350 Nov 08, 2017 (151)
33 GNOMAD ss2964342694 Nov 08, 2017 (151)
34 SWEGEN ss3017703307 Nov 08, 2017 (151)
35 ILLUMINA ss3021927403 Nov 08, 2017 (151)
36 BIOINF_KMB_FNS_UNIBA ss3028703754 Nov 08, 2017 (151)
37 CSHL ss3352368364 Nov 08, 2017 (151)
38 URBANLAB ss3650947495 Oct 12, 2018 (152)
39 ILLUMINA ss3652355303 Oct 12, 2018 (152)
40 ILLUMINA ss3725745762 Jul 13, 2019 (153)
41 ACPOP ss3743157167 Jul 13, 2019 (153)
42 EVA ss3756217895 Jul 13, 2019 (153)
43 PACBIO ss3788570032 Jul 13, 2019 (153)
44 PACBIO ss3793474337 Jul 13, 2019 (153)
45 PACBIO ss3798361451 Jul 13, 2019 (153)
46 KHV_HUMAN_GENOMES ss3821470807 Jul 13, 2019 (153)
47 EVA ss3835532263 Apr 27, 2020 (154)
48 EVA ss3841388896 Apr 27, 2020 (154)
49 EVA ss3846896064 Apr 27, 2020 (154)
50 SGDP_PRJ ss3888517459 Apr 27, 2020 (154)
51 KRGDB ss3938687724 Apr 27, 2020 (154)
52 TOPMED ss5078978727 Apr 26, 2021 (155)
53 TOMMO_GENOMICS ss5228394505 Apr 26, 2021 (155)
54 EVA ss5237599875 Apr 26, 2021 (155)
55 1000G_HIGH_COVERAGE ss5307736392 Oct 13, 2022 (156)
56 HUGCELL_USP ss5500173031 Oct 13, 2022 (156)
57 1000G_HIGH_COVERAGE ss5613658663 Oct 13, 2022 (156)
58 SANFORD_IMAGENETICS ss5662663731 Oct 13, 2022 (156)
59 TOMMO_GENOMICS ss5787249117 Oct 13, 2022 (156)
60 YY_MCH ss5817726824 Oct 13, 2022 (156)
61 EVA ss5840737160 Oct 13, 2022 (156)
62 EVA ss5847499893 Oct 13, 2022 (156)
63 EVA ss5852342364 Oct 13, 2022 (156)
64 EVA ss5928599398 Oct 13, 2022 (156)
65 EVA ss5954061461 Oct 13, 2022 (156)
66 EVA ss5979551914 Oct 13, 2022 (156)
67 1000Genomes NC_000019.9 - 56267804 Oct 12, 2018 (152)
68 1000Genomes_30x NC_000019.10 - 55756438 Oct 13, 2022 (156)
69 The Avon Longitudinal Study of Parents and Children NC_000019.9 - 56267804 Oct 12, 2018 (152)
70 The Danish reference pan genome NC_000019.9 - 56267804 Apr 27, 2020 (154)
71 gnomAD - Genomes NC_000019.10 - 55756438 Apr 26, 2021 (155)
72 Genome of the Netherlands Release 5 NC_000019.9 - 56267804 Apr 27, 2020 (154)
73 HapMap NC_000019.10 - 55756438 Apr 27, 2020 (154)
74 KOREAN population from KRGDB NC_000019.9 - 56267804 Apr 27, 2020 (154)
75 Northern Sweden NC_000019.9 - 56267804 Jul 13, 2019 (153)
76 Qatari NC_000019.9 - 56267804 Apr 27, 2020 (154)
77 SGDP_PRJ NC_000019.9 - 56267804 Apr 27, 2020 (154)
78 Siberian NC_000019.9 - 56267804 Apr 27, 2020 (154)
79 8.3KJPN NC_000019.9 - 56267804 Apr 26, 2021 (155)
80 14KJPN NC_000019.10 - 55756438 Oct 13, 2022 (156)
81 TopMed NC_000019.10 - 55756438 Apr 26, 2021 (155)
82 UK 10K study - Twins NC_000019.9 - 56267804 Oct 12, 2018 (152)
83 ALFA NC_000019.10 - 55756438 Apr 26, 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)
rs41376351 Aug 21, 2014 (142)
rs57278849 May 23, 2008 (130)
rs60259555 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
1691950295 NC_000019.10:55756437:G:A NC_000019.10:55756437:G:A (self)
ss84267315, ss117746922, ss203796290, ss208496218, ss255776557, ss283259482, ss292200325, ss1698486174 NC_000019.8:60959615:G:T NC_000019.10:55756437:G:T (self)
77102417, 42675326, 4871992, 19015023, 45865118, 16442032, 19981790, 40534439, 10814575, 86363812, 42675326, ss340551981, ss566066968, ss661937642, ss994432746, ss1081993029, ss1363676329, ss1428443456, ss1578691621, ss1638204412, ss1681198445, ss1809371995, ss1937939868, ss1959885903, ss2029744267, ss2158298221, ss2702914350, ss2964342694, ss3017703307, ss3021927403, ss3352368364, ss3652355303, ss3743157167, ss3756217895, ss3788570032, ss3793474337, ss3798361451, ss3835532263, ss3841388896, ss3888517459, ss3938687724, ss5228394505, ss5237599875, ss5662663731, ss5840737160, ss5847499893, ss5954061461, ss5979551914 NC_000019.9:56267803:G:T NC_000019.10:55756437:G:T (self)
101184598, 543718622, 1714817, 121086221, 294524391, 1691950295, ss3028703754, ss3650947495, ss3725745762, ss3821470807, ss3846896064, ss5078978727, ss5307736392, ss5500173031, ss5613658663, ss5787249117, ss5817726824, ss5852342364, ss5928599398 NC_000019.10:55756437:G:T NC_000019.10:55756437:G:T (self)
ss12461188, ss14708967, ss21554889 NT_011109.15:28535993:G:T NC_000019.10:55756437:G:T (self)
ss41031795, ss66036945, ss82549996, ss96316649, ss136233240 NT_011109.16:28536021:G:T NC_000019.10:55756437:G:T (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 rs8106481

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