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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.

rs1924622

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr13:28522605 (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
C>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.045049 (11924/264690, TOPMED)
C=0.041716 (5848/140186, GnomAD)
C=0.01953 (552/28258, 14KJPN) (+ 15 more)
C=0.02253 (468/20774, ALFA)
C=0.02035 (341/16760, 8.3KJPN)
C=0.0576 (369/6404, 1000G_30x)
C=0.0537 (269/5008, 1000G)
C=0.0003 (1/3854, ALSPAC)
C=0.0008 (3/3708, TWINSUK)
C=0.0270 (79/2930, KOREAN)
C=0.0295 (54/1832, Korea1K)
C=0.0771 (132/1712, HapMap)
C=0.000 (0/600, NorthernSweden)
C=0.022 (12/554, SGDP_PRJ)
C=0.019 (4/216, Qatari)
C=0.056 (12/214, Vietnamese)
C=0.02 (1/56, Siberian)
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

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 20774 C=0.02253 G=0.00000, T=0.97747
European Sub 15012 C=0.00053 G=0.00000, T=0.99947
African Sub 3130 C=0.1310 G=0.0000, T=0.8690
African Others Sub 104 C=0.154 G=0.000, T=0.846
African American Sub 3026 C=0.1302 G=0.0000, T=0.8698
Asian Sub 164 C=0.012 G=0.000, T=0.988
East Asian Sub 104 C=0.000 G=0.000, T=1.000
Other Asian Sub 60 C=0.03 G=0.00, T=0.97
Latin American 1 Sub 220 C=0.050 G=0.000, T=0.950
Latin American 2 Sub 760 C=0.007 G=0.000, T=0.993
South Asian Sub 110 C=0.000 G=0.000, T=1.000
Other Sub 1378 C=0.0232 G=0.0000, T=0.9768


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 C=0.045049 T=0.954951
gnomAD - Genomes Global Study-wide 140186 C=0.041716 T=0.958284
gnomAD - Genomes European Sub 75964 C=0.00042 T=0.99958
gnomAD - Genomes African Sub 41952 C=0.12707 T=0.87293
gnomAD - Genomes American Sub 13660 C=0.01940 T=0.98060
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.0030 T=0.9970
gnomAD - Genomes East Asian Sub 3132 C=0.0431 T=0.9569
gnomAD - Genomes Other Sub 2154 C=0.0348 T=0.9652
14KJPN JAPANESE Study-wide 28258 C=0.01953 T=0.98047
Allele Frequency Aggregator Total Global 20774 C=0.02253 G=0.00000, T=0.97747
Allele Frequency Aggregator European Sub 15012 C=0.00053 G=0.00000, T=0.99947
Allele Frequency Aggregator African Sub 3130 C=0.1310 G=0.0000, T=0.8690
Allele Frequency Aggregator Other Sub 1378 C=0.0232 G=0.0000, T=0.9768
Allele Frequency Aggregator Latin American 2 Sub 760 C=0.007 G=0.000, T=0.993
Allele Frequency Aggregator Latin American 1 Sub 220 C=0.050 G=0.000, T=0.950
Allele Frequency Aggregator Asian Sub 164 C=0.012 G=0.000, T=0.988
Allele Frequency Aggregator South Asian Sub 110 C=0.000 G=0.000, T=1.000
8.3KJPN JAPANESE Study-wide 16760 C=0.02035 T=0.97965
1000Genomes_30x Global Study-wide 6404 C=0.0576 T=0.9424
1000Genomes_30x African Sub 1786 C=0.1607 T=0.8393
1000Genomes_30x Europe Sub 1266 C=0.0024 T=0.9976
1000Genomes_30x South Asian Sub 1202 C=0.0075 T=0.9925
1000Genomes_30x East Asian Sub 1170 C=0.0496 T=0.9504
1000Genomes_30x American Sub 980 C=0.012 T=0.988
1000Genomes Global Study-wide 5008 C=0.0537 T=0.9463
1000Genomes African Sub 1322 C=0.1543 T=0.8457
1000Genomes East Asian Sub 1008 C=0.0466 T=0.9534
1000Genomes Europe Sub 1006 C=0.0030 T=0.9970
1000Genomes South Asian Sub 978 C=0.006 T=0.994
1000Genomes American Sub 694 C=0.013 T=0.987
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.0003 T=0.9997
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.0008 T=0.9992
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.0270 A=0.0000, G=0.0000, T=0.9730
Korean Genome Project KOREAN Study-wide 1832 C=0.0295 T=0.9705
HapMap Global Study-wide 1712 C=0.0771 T=0.9229
HapMap African Sub 688 C=0.151 T=0.849
HapMap American Sub 594 C=0.032 T=0.968
HapMap Asian Sub 254 C=0.031 T=0.969
HapMap Europe Sub 176 C=0.006 T=0.994
Northern Sweden ACPOP Study-wide 600 C=0.000 T=1.000
SGDP_PRJ Global Study-wide 554 C=0.022 T=0.978
Qatari Global Study-wide 216 C=0.019 T=0.981
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.056 T=0.944
Siberian Global Study-wide 56 C=0.02 T=0.98
The Danish reference pan genome Danish Study-wide 40 C=0.03 T=0.97
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 13 NC_000013.11:g.28522605C>A
GRCh38.p14 chr 13 NC_000013.11:g.28522605C>G
GRCh38.p14 chr 13 NC_000013.11:g.28522605C>T
GRCh37.p13 chr 13 NC_000013.10:g.29096742C>A
GRCh37.p13 chr 13 NC_000013.10:g.29096742C>G
GRCh37.p13 chr 13 NC_000013.10:g.29096742C>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 C= A G T
GRCh38.p14 chr 13 NC_000013.11:g.28522605= NC_000013.11:g.28522605C>A NC_000013.11:g.28522605C>G NC_000013.11:g.28522605C>T
GRCh37.p13 chr 13 NC_000013.10:g.29096742= NC_000013.10:g.29096742C>A NC_000013.10:g.29096742C>G NC_000013.10:g.29096742C>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#.

77 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2811773 Jan 12, 2001 (92)
2 SC_JCM ss6051783 Feb 20, 2003 (111)
3 SC_SNP ss13157385 Dec 05, 2003 (119)
4 CSHL-HAPMAP ss19266010 Feb 27, 2004 (120)
5 SSAHASNP ss21144019 Apr 05, 2004 (121)
6 AFFY ss76682274 Dec 07, 2007 (129)
7 BCMHGSC_JDW ss89558056 Mar 24, 2008 (129)
8 HUMANGENOME_JCVI ss96954609 Feb 06, 2009 (130)
9 KRIBB_YJKIM ss104857278 Feb 06, 2009 (130)
10 BGI ss106322306 Feb 06, 2009 (130)
11 1000GENOMES ss112646515 Jan 25, 2009 (130)
12 1000GENOMES ss114465595 Jan 25, 2009 (130)
13 ILLUMINA-UK ss118401320 Feb 14, 2009 (130)
14 ENSEMBL ss137274346 Dec 01, 2009 (131)
15 GMI ss154582491 Dec 01, 2009 (131)
16 COMPLETE_GENOMICS ss167788989 Jul 04, 2010 (132)
17 COMPLETE_GENOMICS ss169069084 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss170930247 Jul 04, 2010 (132)
19 BUSHMAN ss199012035 Jul 04, 2010 (132)
20 BCM-HGSC-SUB ss208531492 Jul 04, 2010 (132)
21 1000GENOMES ss226098719 Jul 14, 2010 (132)
22 1000GENOMES ss236190170 Jul 15, 2010 (132)
23 1000GENOMES ss242697752 Jul 15, 2010 (132)
24 BL ss254884322 May 09, 2011 (134)
25 GMI ss281652692 May 04, 2012 (137)
26 GMI ss286675090 Apr 25, 2013 (138)
27 PJP ss291564624 May 09, 2011 (134)
28 ILLUMINA ss535892489 Sep 08, 2015 (146)
29 TISHKOFF ss563571019 Apr 25, 2013 (138)
30 SSMP ss659166832 Apr 25, 2013 (138)
31 JMKIDD_LAB ss1078963012 Aug 21, 2014 (142)
32 1000GENOMES ss1347616656 Aug 21, 2014 (142)
33 DDI ss1427140163 Apr 01, 2015 (144)
34 EVA_GENOME_DK ss1576694413 Apr 01, 2015 (144)
35 EVA_UK10K_ALSPAC ss1629955452 Apr 01, 2015 (144)
36 EVA_UK10K_TWINSUK ss1672949485 Apr 01, 2015 (144)
37 EVA_SVP ss1713378353 Apr 01, 2015 (144)
38 HAMMER_LAB ss1807541325 Sep 08, 2015 (146)
39 WEILL_CORNELL_DGM ss1933596473 Feb 12, 2016 (147)
40 GENOMED ss1967743101 Jul 19, 2016 (147)
41 JJLAB ss2027553829 Sep 14, 2016 (149)
42 USC_VALOUEV ss2155918547 Dec 20, 2016 (150)
43 HUMAN_LONGEVITY ss2195096396 Dec 20, 2016 (150)
44 SYSTEMSBIOZJU ss2628265038 Nov 08, 2017 (151)
45 GRF ss2700290720 Nov 08, 2017 (151)
46 GNOMAD ss2917935795 Nov 08, 2017 (151)
47 SWEGEN ss3010773083 Nov 08, 2017 (151)
48 BIOINF_KMB_FNS_UNIBA ss3027592438 Nov 08, 2017 (151)
49 CSHL ss3350381525 Nov 08, 2017 (151)
50 ILLUMINA ss3627029460 Oct 12, 2018 (152)
51 URBANLAB ss3649996238 Oct 12, 2018 (152)
52 EVA_DECODE ss3694990146 Jul 13, 2019 (153)
53 ACPOP ss3739611688 Jul 13, 2019 (153)
54 EVA ss3751274820 Jul 13, 2019 (153)
55 PACBIO ss3787414045 Jul 13, 2019 (153)
56 PACBIO ss3792486730 Jul 13, 2019 (153)
57 PACBIO ss3797370447 Jul 13, 2019 (153)
58 KHV_HUMAN_GENOMES ss3816605849 Jul 13, 2019 (153)
59 EVA ss3833466481 Apr 27, 2020 (154)
60 EVA ss3840310348 Apr 27, 2020 (154)
61 EVA ss3845795080 Apr 27, 2020 (154)
62 SGDP_PRJ ss3879659190 Apr 27, 2020 (154)
63 KRGDB ss3928480528 Apr 27, 2020 (154)
64 KOGIC ss3973266646 Apr 27, 2020 (154)
65 TOPMED ss4940972410 Apr 26, 2021 (155)
66 TOMMO_GENOMICS ss5209313278 Apr 26, 2021 (155)
67 1000G_HIGH_COVERAGE ss5293205784 Oct 16, 2022 (156)
68 EVA ss5409800623 Oct 16, 2022 (156)
69 HUGCELL_USP ss5487621955 Oct 16, 2022 (156)
70 1000G_HIGH_COVERAGE ss5591889250 Oct 16, 2022 (156)
71 SANFORD_IMAGENETICS ss5654465013 Oct 16, 2022 (156)
72 TOMMO_GENOMICS ss5760993950 Oct 16, 2022 (156)
73 YY_MCH ss5813978175 Oct 16, 2022 (156)
74 EVA ss5839265688 Oct 16, 2022 (156)
75 EVA ss5850661581 Oct 16, 2022 (156)
76 EVA ss5924494159 Oct 16, 2022 (156)
77 EVA ss5945871239 Oct 16, 2022 (156)
78 1000Genomes NC_000013.10 - 29096742 Oct 12, 2018 (152)
79 1000Genomes_30x NC_000013.11 - 28522605 Oct 16, 2022 (156)
80 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 29096742 Oct 12, 2018 (152)
81 The Danish reference pan genome NC_000013.10 - 29096742 Apr 27, 2020 (154)
82 gnomAD - Genomes NC_000013.11 - 28522605 Apr 26, 2021 (155)
83 HapMap NC_000013.11 - 28522605 Apr 27, 2020 (154)
84 KOREAN population from KRGDB NC_000013.10 - 29096742 Apr 27, 2020 (154)
85 Korean Genome Project NC_000013.11 - 28522605 Apr 27, 2020 (154)
86 Northern Sweden NC_000013.10 - 29096742 Jul 13, 2019 (153)
87 Qatari NC_000013.10 - 29096742 Apr 27, 2020 (154)
88 SGDP_PRJ NC_000013.10 - 29096742 Apr 27, 2020 (154)
89 Siberian NC_000013.10 - 29096742 Apr 27, 2020 (154)
90 8.3KJPN NC_000013.10 - 29096742 Apr 26, 2021 (155)
91 14KJPN NC_000013.11 - 28522605 Oct 16, 2022 (156)
92 TopMed NC_000013.11 - 28522605 Apr 26, 2021 (155)
93 UK 10K study - Twins NC_000013.10 - 29096742 Oct 12, 2018 (152)
94 A Vietnamese Genetic Variation Database NC_000013.10 - 29096742 Jul 13, 2019 (153)
95 ALFA NC_000013.11 - 28522605 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
35657922, ss3928480528 NC_000013.10:29096741:C:A NC_000013.11:28522604:C:A (self)
35657922, ss3928480528 NC_000013.10:29096741:C:G NC_000013.11:28522604:C:G (self)
6863016998 NC_000013.11:28522604:C:G NC_000013.11:28522604:C:G (self)
ss76682274, ss89558056, ss112646515, ss114465595, ss118401320, ss167788989, ss169069084, ss170930247, ss199012035, ss208531492, ss254884322, ss281652692, ss286675090, ss291564624, ss1713378353 NC_000013.9:27994741:C:T NC_000013.11:28522604:C:T (self)
60464955, 33582102, 3234045, 35657922, 12896553, 15638403, 31676170, 8434901, 67282585, 33582102, 7449168, ss226098719, ss236190170, ss242697752, ss535892489, ss563571019, ss659166832, ss1078963012, ss1347616656, ss1427140163, ss1576694413, ss1629955452, ss1672949485, ss1807541325, ss1933596473, ss1967743101, ss2027553829, ss2155918547, ss2628265038, ss2700290720, ss2917935795, ss3010773083, ss3350381525, ss3627029460, ss3739611688, ss3751274820, ss3787414045, ss3792486730, ss3797370447, ss3833466481, ss3840310348, ss3879659190, ss3928480528, ss5209313278, ss5409800623, ss5654465013, ss5839265688, ss5945871239 NC_000013.10:29096741:C:T NC_000013.11:28522604:C:T (self)
79415185, 426363243, 954942, 29644647, 94831054, 156518068, 6863016998, ss2195096396, ss3027592438, ss3649996238, ss3694990146, ss3816605849, ss3845795080, ss3973266646, ss4940972410, ss5293205784, ss5487621955, ss5591889250, ss5760993950, ss5813978175, ss5850661581, ss5924494159 NC_000013.11:28522604:C:T NC_000013.11:28522604:C:T (self)
ss13157385 NT_009799.12:10076741:C:T NC_000013.11:28522604:C:T (self)
ss19266010, ss21144019 NT_024524.13:10076741:C:T NC_000013.11:28522604:C:T (self)
ss2811773, ss6051783, ss96954609, ss104857278, ss106322306, ss137274346, ss154582491 NT_024524.14:10076741:C:T NC_000013.11:28522604:C: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 rs1924622

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