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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.

rs429

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr7:19066882 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.241362 (63886/264690, TOPMED)
C=0.232749 (32563/139906, GnomAD)
C=0.14256 (2693/18890, ALFA) (+ 14 more)
C=0.00018 (3/16758, 8.3KJPN)
C=0.2362 (1183/5008, 1000G)
C=0.0366 (164/4480, Estonian)
C=0.0361 (139/3854, ALSPAC)
C=0.0332 (123/3708, TWINSUK)
C=0.0014 (4/2922, KOREAN)
C=0.0005 (1/1832, Korea1K)
C=0.035 (35/998, GoNL)
C=0.201 (188/934, HapMap)
C=0.053 (32/600, NorthernSweden)
C=0.176 (38/216, Qatari)
C=0.009 (2/216, Vietnamese)
G=0.191 (21/110, SGDP_PRJ)
C=0.03 (1/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
Genomic View
See rs on genome
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 7 NC_000007.14:g.19066882G>C
GRCh37.p13 chr 7 NC_000007.13:g.19106505G>C
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

ALFA Allele Frequency (New)
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 18890 G=0.85744 C=0.14256
European Sub 14286 G=0.96332 C=0.03668
African Sub 2946 G=0.3371 C=0.6629
African Others Sub 114 G=0.254 C=0.746
African American Sub 2832 G=0.3404 C=0.6596
Asian Sub 112 G=0.991 C=0.009
East Asian Sub 86 G=1.00 C=0.00
Other Asian Sub 26 G=0.96 C=0.04
Latin American 1 Sub 146 G=0.849 C=0.151
Latin American 2 Sub 610 G=0.934 C=0.066
South Asian Sub 98 G=0.96 C=0.04
Other Sub 692 G=0.785 C=0.215


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=0.758638 C=0.241362
gnomAD - Genomes Global Study-wide 139906 G=0.767251 C=0.232749
gnomAD - Genomes European Sub 75824 G=0.96320 C=0.03680
gnomAD - Genomes African Sub 41882 G=0.33391 C=0.66609
gnomAD - Genomes American Sub 13610 G=0.90345 C=0.09655
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=0.9563 C=0.0437
gnomAD - Genomes East Asian Sub 3120 G=0.9910 C=0.0090
gnomAD - Genomes Other Sub 2150 G=0.8191 C=0.1809
8.3KJPN JAPANESE Study-wide 16758 G=0.99982 C=0.00018
1000Genomes Global Study-wide 5008 G=0.7638 C=0.2362
1000Genomes African Sub 1322 G=0.2300 C=0.7700
1000Genomes East Asian Sub 1008 G=0.9841 C=0.0159
1000Genomes Europe Sub 1006 G=0.9553 C=0.0447
1000Genomes South Asian Sub 978 G=0.947 C=0.053
1000Genomes American Sub 694 G=0.925 C=0.075
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9634 C=0.0366
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9639 C=0.0361
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9668 C=0.0332
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9986 C=0.0014
Korean Genome Project KOREAN Study-wide 1832 G=0.9995 C=0.0005
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.965 C=0.035
HapMap Global Study-wide 934 G=0.799 C=0.201
HapMap American Sub 384 G=0.982 C=0.018
HapMap African Sub 214 G=0.192 C=0.808
HapMap Asian Sub 168 G=0.994 C=0.006
HapMap Europe Sub 168 G=0.958 C=0.042
Northern Sweden ACPOP Study-wide 600 G=0.947 C=0.053
Qatari Global Study-wide 216 G=0.824 C=0.176
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.991 C=0.009
SGDP_PRJ Global Study-wide 110 G=0.191 C=0.809
The Danish reference pan genome Danish Study-wide 40 G=0.97 C=0.03
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= C
GRCh38.p13 chr 7 NC_000007.14:g.19066882= NC_000007.14:g.19066882G>C
GRCh37.p13 chr 7 NC_000007.13:g.19106505= NC_000007.13:g.19106505G>C
TWIST1 transcript variant X1 XM_005249835.1:c.*90-10717= XM_005249835.1:c.*90-10717C>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#.

43 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss433 Sep 19, 2000 (36)
2 WUGSC_SSAHASNP ss14588596 Dec 05, 2003 (120)
3 PERLEGEN ss23703750 Sep 20, 2004 (123)
4 AFFY ss76593755 Dec 07, 2007 (129)
5 HGSV ss85266310 Dec 16, 2007 (130)
6 KRIBB_YJKIM ss104807680 Feb 06, 2009 (130)
7 1000GENOMES ss113408512 Jan 25, 2009 (130)
8 ILLUMINA-UK ss115964468 Feb 14, 2009 (130)
9 COMPLETE_GENOMICS ss163755069 Jul 04, 2010 (132)
10 BUSHMAN ss203031291 Jul 04, 2010 (132)
11 1000GENOMES ss222942506 Jul 14, 2010 (132)
12 1000GENOMES ss233874598 Jul 15, 2010 (132)
13 TISHKOFF ss559844709 Apr 25, 2013 (138)
14 SSMP ss654194877 Apr 25, 2013 (138)
15 EVA-GONL ss984012120 Aug 21, 2014 (142)
16 JMKIDD_LAB ss1074411694 Aug 21, 2014 (142)
17 1000GENOMES ss1324159550 Aug 21, 2014 (142)
18 DDI ss1431046858 Apr 01, 2015 (144)
19 EVA_GENOME_DK ss1582096018 Apr 01, 2015 (144)
20 EVA_DECODE ss1593578663 Apr 01, 2015 (144)
21 EVA_UK10K_ALSPAC ss1617694073 Apr 01, 2015 (144)
22 EVA_UK10K_TWINSUK ss1660688106 Apr 01, 2015 (144)
23 EVA_SVP ss1712935922 Apr 01, 2015 (144)
24 HAMMER_LAB ss1804895333 Sep 08, 2015 (146)
25 WEILL_CORNELL_DGM ss1927258004 Feb 12, 2016 (147)
26 JJLAB ss2024304177 Sep 14, 2016 (149)
27 HUMAN_LONGEVITY ss2292144484 Dec 20, 2016 (150)
28 TOPMED ss2460986101 Dec 20, 2016 (150)
29 GNOMAD ss2850406113 Nov 08, 2017 (151)
30 SWEGEN ss3000718433 Nov 08, 2017 (151)
31 CSHL ss3347465023 Nov 08, 2017 (151)
32 TOPMED ss3523973960 Nov 08, 2017 (151)
33 EGCUT_WGS ss3668645273 Jul 13, 2019 (153)
34 EVA_DECODE ss3719212289 Jul 13, 2019 (153)
35 ACPOP ss3734409062 Jul 13, 2019 (153)
36 EVA ss3766257563 Jul 13, 2019 (153)
37 KHV_HUMAN_GENOMES ss3809426298 Jul 13, 2019 (153)
38 EVA ss3830445259 Apr 26, 2020 (154)
39 SGDP_PRJ ss3866753887 Apr 26, 2020 (154)
40 KRGDB ss3913783579 Apr 26, 2020 (154)
41 KOGIC ss3960988808 Apr 26, 2020 (154)
42 TOPMED ss4737571912 Apr 26, 2021 (155)
43 TOMMO_GENOMICS ss5182060983 Apr 26, 2021 (155)
44 1000Genomes NC_000007.13 - 19106505 Oct 12, 2018 (152)
45 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 19106505 Oct 12, 2018 (152)
46 Genetic variation in the Estonian population NC_000007.13 - 19106505 Oct 12, 2018 (152)
47 The Danish reference pan genome NC_000007.13 - 19106505 Apr 26, 2020 (154)
48 gnomAD - Genomes NC_000007.14 - 19066882 Apr 26, 2021 (155)
49 Genome of the Netherlands Release 5 NC_000007.13 - 19106505 Apr 26, 2020 (154)
50 HapMap NC_000007.14 - 19066882 Apr 26, 2020 (154)
51 KOREAN population from KRGDB NC_000007.13 - 19106505 Apr 26, 2020 (154)
52 Korean Genome Project NC_000007.14 - 19066882 Apr 26, 2020 (154)
53 Northern Sweden NC_000007.13 - 19106505 Jul 13, 2019 (153)
54 Qatari NC_000007.13 - 19106505 Apr 26, 2020 (154)
55 SGDP_PRJ NC_000007.13 - 19106505 Apr 26, 2020 (154)
56 8.3KJPN NC_000007.13 - 19106505 Apr 26, 2021 (155)
57 TopMed NC_000007.14 - 19066882 Apr 26, 2021 (155)
58 UK 10K study - Twins NC_000007.13 - 19106505 Oct 12, 2018 (152)
59 A Vietnamese Genetic Variation Database NC_000007.13 - 19106505 Jul 13, 2019 (153)
60 ALFA NC_000007.14 - 19066882 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)
rs10382998 Feb 27, 2004 (120)
rs61585958 May 27, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss85266310 NC_000007.11:18879744:G:C NC_000007.14:19066881:G:C (self)
ss76593755, ss113408512, ss115964468, ss163755069, ss203031291, ss1593578663, ss1712935922 NC_000007.12:19073029:G:C NC_000007.14:19066881:G:C (self)
36095274, 20120684, 14383521, 8260957, 8968868, 20960973, 7693927, 9299934, 18770867, 40030290, 20120684, 4481966, ss222942506, ss233874598, ss559844709, ss654194877, ss984012120, ss1074411694, ss1324159550, ss1431046858, ss1582096018, ss1617694073, ss1660688106, ss1804895333, ss1927258004, ss2024304177, ss2460986101, ss2850406113, ss3000718433, ss3347465023, ss3668645273, ss3734409062, ss3766257563, ss3830445259, ss3866753887, ss3913783579, ss5182060983 NC_000007.13:19106504:G:C NC_000007.14:19066881:G:C (self)
254539941, 3348546, 17366809, 359663539, 574949471, 5494529947, ss2292144484, ss3523973960, ss3719212289, ss3809426298, ss3960988808, ss4737571912 NC_000007.14:19066881:G:C NC_000007.14:19066881:G:C (self)
ss14588596 NT_007819.14:18402156:G:C NC_000007.14:19066881:G:C (self)
ss433, ss23703750, ss104807680 NT_007819.17:19096504:G:C NC_000007.14:19066881: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 rs429

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.post596+ae089ad