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dbSNP Short Genetic Variations

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.

rs1771178

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr13:28627051 (GRCh38.p13) 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 / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.092724 (24543/264690, TOPMED)
G=0.088312 (12379/140174, GnomAD)
G=0.04155 (1282/30856, ALFA) (+ 14 more)
G=0.11008 (1845/16760, 8.3KJPN)
G=0.1074 (538/5008, 1000G)
G=0.0150 (67/4480, Estonian)
G=0.0145 (56/3854, ALSPAC)
G=0.0135 (50/3708, TWINSUK)
G=0.0928 (272/2930, KOREAN)
G=0.013 (13/998, GoNL)
G=0.018 (11/600, NorthernSweden)
G=0.065 (36/554, SGDP_PRJ)
G=0.042 (9/216, Qatari)
G=0.125 (27/216, Vietnamese)
G=0.160 (33/206, HapMap)
G=0.09 (5/56, Siberian)
G=0.00 (0/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 30856 G=0.04155 A=0.95845
European Sub 24726 G=0.01727 A=0.98273
African Sub 3168 G=0.2247 A=0.7753
African Others Sub 124 G=0.274 A=0.726
African American Sub 3044 G=0.2227 A=0.7773
Asian Sub 128 G=0.164 A=0.836
East Asian Sub 100 G=0.14 A=0.86
Other Asian Sub 28 G=0.25 A=0.75
Latin American 1 Sub 168 G=0.060 A=0.940
Latin American 2 Sub 700 G=0.026 A=0.974
South Asian Sub 114 G=0.061 A=0.939
Other Sub 1852 G=0.0470 A=0.9530


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=0.092724 A=0.907276
gnomAD - Genomes Global Study-wide 140174 G=0.088312 A=0.911688
gnomAD - Genomes European Sub 75944 G=0.02120 A=0.97880
gnomAD - Genomes African Sub 41964 G=0.22781 A=0.77219
gnomAD - Genomes American Sub 13664 G=0.04486 A=0.95514
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.0084 A=0.9916
gnomAD - Genomes East Asian Sub 3126 G=0.1292 A=0.8708
gnomAD - Genomes Other Sub 2152 G=0.0762 A=0.9238
Allele Frequency Aggregator Total Global 30856 G=0.04155 A=0.95845
Allele Frequency Aggregator European Sub 24726 G=0.01727 A=0.98273
Allele Frequency Aggregator African Sub 3168 G=0.2247 A=0.7753
Allele Frequency Aggregator Other Sub 1852 G=0.0470 A=0.9530
Allele Frequency Aggregator Latin American 2 Sub 700 G=0.026 A=0.974
Allele Frequency Aggregator Latin American 1 Sub 168 G=0.060 A=0.940
Allele Frequency Aggregator Asian Sub 128 G=0.164 A=0.836
Allele Frequency Aggregator South Asian Sub 114 G=0.061 A=0.939
8.3KJPN JAPANESE Study-wide 16760 G=0.11008 A=0.88992
1000Genomes Global Study-wide 5008 G=0.1074 A=0.8926
1000Genomes African Sub 1322 G=0.2405 A=0.7595
1000Genomes East Asian Sub 1008 G=0.1200 A=0.8800
1000Genomes Europe Sub 1006 G=0.0229 A=0.9771
1000Genomes South Asian Sub 978 G=0.048 A=0.952
1000Genomes American Sub 694 G=0.042 A=0.958
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.0150 A=0.9850
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.0145 A=0.9855
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.0135 A=0.9865
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.0928 A=0.9072, C=0.0000, T=0.0000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.013 A=0.987
Northern Sweden ACPOP Study-wide 600 G=0.018 A=0.982
SGDP_PRJ Global Study-wide 554 G=0.065 A=0.935
Qatari Global Study-wide 216 G=0.042 A=0.958
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.125 A=0.875
HapMap Global Study-wide 206 G=0.160 A=0.840
HapMap African Sub 120 G=0.242 A=0.758
HapMap Asian Sub 86 G=0.05 A=0.95
Siberian Global Study-wide 56 G=0.09 A=0.91
The Danish reference pan genome Danish Study-wide 40 G=0.00 A=1.00
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.p13 chr 13 NC_000013.11:g.28627051G>A
GRCh38.p13 chr 13 NC_000013.11:g.28627051G>C
GRCh38.p13 chr 13 NC_000013.11:g.28627051G>T
GRCh37.p13 chr 13 NC_000013.10:g.29201188G>A
GRCh37.p13 chr 13 NC_000013.10:g.29201188G>C
GRCh37.p13 chr 13 NC_000013.10:g.29201188G>T
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 T
GRCh38.p13 chr 13 NC_000013.11:g.28627051= NC_000013.11:g.28627051G>A NC_000013.11:g.28627051G>C NC_000013.11:g.28627051G>T
GRCh37.p13 chr 13 NC_000013.10:g.29201188= NC_000013.10:g.29201188G>A NC_000013.10:g.29201188G>C NC_000013.10:g.29201188G>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#.

78 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss2630695 Nov 09, 2000 (89)
2 SC_JCM ss5989569 Feb 20, 2003 (111)
3 BCM_SSAHASNP ss11075212 Jul 11, 2003 (116)
4 SC_SNP ss13254273 Dec 05, 2003 (119)
5 SSAHASNP ss21123498 Apr 05, 2004 (121)
6 PERLEGEN ss23468784 Sep 20, 2004 (123)
7 HGSV ss82478993 Dec 15, 2007 (130)
8 BCMHGSC_JDW ss89558854 Mar 24, 2008 (129)
9 HUMANGENOME_JCVI ss96954741 Feb 05, 2009 (130)
10 BGI ss106322398 Feb 05, 2009 (130)
11 1000GENOMES ss112647384 Jan 25, 2009 (130)
12 1000GENOMES ss114467059 Jan 25, 2009 (130)
13 ILLUMINA-UK ss118401665 Feb 14, 2009 (130)
14 ENSEMBL ss133504422 Dec 01, 2009 (131)
15 ENSEMBL ss137273969 Dec 01, 2009 (131)
16 GMI ss154584168 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss167791444 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss169071840 Jul 04, 2010 (132)
19 COMPLETE_GENOMICS ss170931927 Jul 04, 2010 (132)
20 BUSHMAN ss199013243 Jul 04, 2010 (132)
21 BCM-HGSC-SUB ss208450897 Jul 04, 2010 (132)
22 1000GENOMES ss226099280 Jul 14, 2010 (132)
23 1000GENOMES ss236190563 Jul 15, 2010 (132)
24 1000GENOMES ss242698066 Jul 15, 2010 (132)
25 BL ss254885388 May 09, 2011 (134)
26 GMI ss281653067 May 04, 2012 (137)
27 GMI ss286675307 Apr 25, 2013 (138)
28 PJP ss291564851 May 09, 2011 (134)
29 ILLUMINA ss483174023 May 04, 2012 (137)
30 ILLUMINA ss484301373 May 04, 2012 (137)
31 ILLUMINA ss536485442 Sep 08, 2015 (146)
32 TISHKOFF ss563571621 Apr 25, 2013 (138)
33 SSMP ss659167402 Apr 25, 2013 (138)
34 ILLUMINA ss780602401 Sep 08, 2015 (146)
35 ILLUMINA ss782596857 Sep 08, 2015 (146)
36 ILLUMINA ss836095562 Sep 08, 2015 (146)
37 EVA-GONL ss990228439 Aug 21, 2014 (142)
38 JMKIDD_LAB ss1078963733 Aug 21, 2014 (142)
39 1000GENOMES ss1347619870 Aug 21, 2014 (142)
40 DDI ss1427140518 Apr 01, 2015 (144)
41 EVA_GENOME_DK ss1576695074 Apr 01, 2015 (144)
42 EVA_UK10K_ALSPAC ss1629957281 Apr 01, 2015 (144)
43 EVA_DECODE ss1642333013 Apr 01, 2015 (144)
44 EVA_UK10K_TWINSUK ss1672951314 Apr 01, 2015 (144)
45 HAMMER_LAB ss1807541793 Sep 08, 2015 (146)
46 WEILL_CORNELL_DGM ss1933597400 Feb 12, 2016 (147)
47 GENOMED ss1967743383 Jul 19, 2016 (147)
48 JJLAB ss2027554365 Sep 14, 2016 (149)
49 USC_VALOUEV ss2155919106 Dec 20, 2016 (150)
50 HUMAN_LONGEVITY ss2195102884 Dec 20, 2016 (150)
51 TOPMED ss2359203023 Dec 20, 2016 (150)
52 SYSTEMSBIOZJU ss2628265330 Nov 08, 2017 (151)
53 ILLUMINA ss2633043872 Nov 08, 2017 (151)
54 GRF ss2700291255 Nov 08, 2017 (151)
55 GNOMAD ss2917944455 Nov 08, 2017 (151)
56 SWEGEN ss3010774372 Nov 08, 2017 (151)
57 BIOINF_KMB_FNS_UNIBA ss3027592727 Nov 08, 2017 (151)
58 TOPMED ss3188783021 Nov 08, 2017 (151)
59 CSHL ss3350381977 Nov 08, 2017 (151)
60 ILLUMINA ss3627029680 Oct 12, 2018 (152)
61 ILLUMINA ss3631048116 Oct 12, 2018 (152)
62 ILLUMINA ss3641830000 Oct 12, 2018 (152)
63 URBANLAB ss3649996482 Oct 12, 2018 (152)
64 EGCUT_WGS ss3678035110 Jul 13, 2019 (153)
65 EVA_DECODE ss3694991604 Jul 13, 2019 (153)
66 ACPOP ss3739612524 Jul 13, 2019 (153)
67 EVA ss3751275922 Jul 13, 2019 (153)
68 PACBIO ss3787414315 Jul 13, 2019 (153)
69 PACBIO ss3792486989 Jul 13, 2019 (153)
70 PACBIO ss3797370705 Jul 13, 2019 (153)
71 KHV_HUMAN_GENOMES ss3816606926 Jul 13, 2019 (153)
72 EVA ss3833466944 Apr 27, 2020 (154)
73 EVA ss3840310670 Apr 27, 2020 (154)
74 EVA ss3845795412 Apr 27, 2020 (154)
75 SGDP_PRJ ss3879660905 Apr 27, 2020 (154)
76 KRGDB ss3928482359 Apr 27, 2020 (154)
77 TOPMED ss4940998748 Apr 26, 2021 (155)
78 TOMMO_GENOMICS ss5209316911 Apr 26, 2021 (155)
79 1000Genomes NC_000013.10 - 29201188 Oct 12, 2018 (152)
80 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 29201188 Oct 12, 2018 (152)
81 Genetic variation in the Estonian population NC_000013.10 - 29201188 Oct 12, 2018 (152)
82 The Danish reference pan genome NC_000013.10 - 29201188 Apr 27, 2020 (154)
83 gnomAD - Genomes NC_000013.11 - 28627051 Apr 26, 2021 (155)
84 Genome of the Netherlands Release 5 NC_000013.10 - 29201188 Apr 27, 2020 (154)
85 HapMap NC_000013.11 - 28627051 Apr 27, 2020 (154)
86 KOREAN population from KRGDB NC_000013.10 - 29201188 Apr 27, 2020 (154)
87 Northern Sweden NC_000013.10 - 29201188 Jul 13, 2019 (153)
88 Qatari NC_000013.10 - 29201188 Apr 27, 2020 (154)
89 SGDP_PRJ NC_000013.10 - 29201188 Apr 27, 2020 (154)
90 Siberian NC_000013.10 - 29201188 Apr 27, 2020 (154)
91 8.3KJPN NC_000013.10 - 29201188 Apr 26, 2021 (155)
92 TopMed NC_000013.11 - 28627051 Apr 26, 2021 (155)
93 UK 10K study - Twins NC_000013.10 - 29201188 Oct 12, 2018 (152)
94 A Vietnamese Genetic Variation Database NC_000013.10 - 29201188 Jul 13, 2019 (153)
95 ALFA NC_000013.11 - 28627051 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)
rs58884722 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss82478993, ss89558854, ss112647384, ss114467059, ss118401665, ss167791444, ss169071840, ss170931927, ss199013243, ss208450897, ss254885388, ss281653067, ss286675307, ss291564851, ss483174023, ss1642333013 NC_000013.9:28099187:G:A NC_000013.11:28627050:G:A (self)
60468289, 33584130, 23773358, 3234473, 14984919, 35659753, 12897389, 15639330, 31677885, 8435460, 67286218, 33584130, 7449614, ss226099280, ss236190563, ss242698066, ss484301373, ss536485442, ss563571621, ss659167402, ss780602401, ss782596857, ss836095562, ss990228439, ss1078963733, ss1347619870, ss1427140518, ss1576695074, ss1629957281, ss1672951314, ss1807541793, ss1933597400, ss1967743383, ss2027554365, ss2155919106, ss2359203023, ss2628265330, ss2633043872, ss2700291255, ss2917944455, ss3010774372, ss3350381977, ss3627029680, ss3631048116, ss3641830000, ss3678035110, ss3739612524, ss3751275922, ss3787414315, ss3792486989, ss3797370705, ss3833466944, ss3840310670, ss3879660905, ss3928482359, ss5209316911 NC_000013.10:29201187:G:A NC_000013.11:28627050:G:A (self)
426387086, 955170, 97892471, 156544406, 1032987845, ss2195102884, ss3027592727, ss3188783021, ss3649996482, ss3694991604, ss3816606926, ss3845795412, ss4940998748 NC_000013.11:28627050:G:A NC_000013.11:28627050:G:A (self)
ss11075212, ss13254273 NT_009799.12:10181187:G:A NC_000013.11:28627050:G:A (self)
ss21123498 NT_024524.13:10181187:G:A NC_000013.11:28627050:G:A (self)
ss2630695, ss5989569, ss23468784, ss96954741, ss106322398, ss133504422, ss137273969, ss154584168 NT_024524.14:10181187:G:A NC_000013.11:28627050:G:A (self)
35659753, ss3928482359 NC_000013.10:29201187:G:C NC_000013.11:28627050:G:C (self)
35659753, ss3928482359 NC_000013.10:29201187:G:T NC_000013.11:28627050: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 rs1771178

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.post629+eb05767