Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs9304892

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:259575 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.397212 (105138/264690, TOPMED)
G=0.380759 (53285/139944, GnomAD)
A=0.17733 (5011/28258, 14KJPN) (+ 16 more)
G=0.37713 (7124/18890, ALFA)
A=0.17924 (3004/16760, 8.3KJPN)
G=0.4877 (3123/6404, 1000G_30x)
G=0.4946 (2477/5008, 1000G)
G=0.3402 (1524/4480, Estonian)
G=0.4183 (1612/3854, ALSPAC)
G=0.4086 (1515/3708, TWINSUK)
A=0.1708 (499/2922, KOREAN)
A=0.1747 (320/1832, Korea1K)
G=0.424 (423/998, GoNL)
G=0.420 (252/600, NorthernSweden)
G=0.293 (109/372, SGDP_PRJ)
G=0.417 (90/216, Qatari)
A=0.111 (23/208, Vietnamese)
G=0.32 (14/44, Siberian)
A=0.45 (18/40, 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 18890 G=0.37713 A=0.62287
European Sub 14286 G=0.38408 A=0.61592
African Sub 2946 G=0.2929 A=0.7071
African Others Sub 114 G=0.202 A=0.798
African American Sub 2832 G=0.2966 A=0.7034
Asian Sub 112 G=0.857 A=0.143
East Asian Sub 86 G=0.90 A=0.10
Other Asian Sub 26 G=0.73 A=0.27
Latin American 1 Sub 146 G=0.363 A=0.637
Latin American 2 Sub 610 G=0.497 A=0.503
South Asian Sub 98 G=0.55 A=0.45
Other Sub 692 G=0.387 A=0.613


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=0.397212 A=0.602788
gnomAD - Genomes Global Study-wide 139944 G=0.380759 A=0.619241
gnomAD - Genomes European Sub 75796 G=0.39546 A=0.60454
gnomAD - Genomes African Sub 41912 G=0.29113 A=0.70887
gnomAD - Genomes American Sub 13634 G=0.47785 A=0.52215
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.3085 A=0.6915
gnomAD - Genomes East Asian Sub 3126 G=0.8711 A=0.1289
gnomAD - Genomes Other Sub 2154 G=0.3928 A=0.6072
14KJPN JAPANESE Study-wide 28258 G=0.82267 A=0.17733
Allele Frequency Aggregator Total Global 18890 G=0.37713 A=0.62287
Allele Frequency Aggregator European Sub 14286 G=0.38408 A=0.61592
Allele Frequency Aggregator African Sub 2946 G=0.2929 A=0.7071
Allele Frequency Aggregator Other Sub 692 G=0.387 A=0.613
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.497 A=0.503
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.363 A=0.637
Allele Frequency Aggregator Asian Sub 112 G=0.857 A=0.143
Allele Frequency Aggregator South Asian Sub 98 G=0.55 A=0.45
8.3KJPN JAPANESE Study-wide 16760 G=0.82076 A=0.17924
1000Genomes_30x Global Study-wide 6404 G=0.4877 A=0.5123
1000Genomes_30x African Sub 1786 G=0.2716 A=0.7284
1000Genomes_30x Europe Sub 1266 G=0.3799 A=0.6201
1000Genomes_30x South Asian Sub 1202 G=0.5416 A=0.4584
1000Genomes_30x East Asian Sub 1170 G=0.8718 A=0.1282
1000Genomes_30x American Sub 980 G=0.496 A=0.504
1000Genomes Global Study-wide 5008 G=0.4946 A=0.5054
1000Genomes African Sub 1322 G=0.2663 A=0.7337
1000Genomes East Asian Sub 1008 G=0.8760 A=0.1240
1000Genomes Europe Sub 1006 G=0.3757 A=0.6243
1000Genomes South Asian Sub 978 G=0.532 A=0.468
1000Genomes American Sub 694 G=0.496 A=0.504
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.3402 A=0.6598
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.4183 A=0.5817
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.4086 A=0.5914
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.8292 A=0.1708
Korean Genome Project KOREAN Study-wide 1832 G=0.8253 A=0.1747
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.424 A=0.576
Northern Sweden ACPOP Study-wide 600 G=0.420 A=0.580
SGDP_PRJ Global Study-wide 372 G=0.293 A=0.707
Qatari Global Study-wide 216 G=0.417 A=0.583
A Vietnamese Genetic Variation Database Global Study-wide 208 G=0.889 A=0.111
Siberian Global Study-wide 44 G=0.32 A=0.68
The Danish reference pan genome Danish Study-wide 40 G=0.55 A=0.45
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.259575G>A
GRCh37.p13 chr 19 NC_000019.9:g.259575G>A
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
GRCh38.p14 chr 19 NC_000019.10:g.259575= NC_000019.10:g.259575G>A
GRCh37.p13 chr 19 NC_000019.9:g.259575= NC_000019.9:g.259575G>A
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#.

69 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss14013445 Dec 05, 2003 (119)
2 BCM_SSAHASNP ss14714113 Dec 05, 2003 (119)
3 CSHL-HAPMAP ss16793026 Feb 27, 2004 (120)
4 CSHL-HAPMAP ss17616504 Feb 27, 2004 (120)
5 CSHL-HAPMAP ss19399237 Feb 27, 2004 (120)
6 SSAHASNP ss21516138 Apr 05, 2004 (121)
7 ABI ss40991670 Mar 13, 2006 (126)
8 HGSV ss77230962 Dec 06, 2007 (129)
9 HGSV ss78122359 Dec 06, 2007 (129)
10 HUMANGENOME_JCVI ss96284308 Feb 05, 2009 (130)
11 ENSEMBL ss132739440 Dec 01, 2009 (131)
12 COMPLETE_GENOMICS ss167624406 Jul 04, 2010 (132)
13 COMPLETE_GENOMICS ss168827419 Jul 04, 2010 (132)
14 COMPLETE_GENOMICS ss171369142 Jul 04, 2010 (132)
15 BUSHMAN ss203566755 Jul 04, 2010 (132)
16 BL ss255419760 May 09, 2011 (134)
17 GMI ss283092211 May 04, 2012 (137)
18 GMI ss287331750 Apr 25, 2013 (138)
19 PJP ss292171252 May 09, 2011 (134)
20 1000GENOMES ss340260955 May 09, 2011 (134)
21 TISHKOFF ss565799036 Apr 25, 2013 (138)
22 SSMP ss661648861 Apr 25, 2013 (138)
23 EVA-GONL ss993995714 Aug 21, 2014 (142)
24 JMKIDD_LAB ss1081702594 Aug 21, 2014 (142)
25 1000GENOMES ss1362000618 Aug 21, 2014 (142)
26 DDI ss1428306280 Apr 01, 2015 (144)
27 EVA_GENOME_DK ss1578519173 Apr 01, 2015 (144)
28 EVA_UK10K_ALSPAC ss1637405241 Apr 01, 2015 (144)
29 EVA_UK10K_TWINSUK ss1680399274 Apr 01, 2015 (144)
30 EVA_DECODE ss1698059275 Apr 01, 2015 (144)
31 HAMMER_LAB ss1809165870 Sep 08, 2015 (146)
32 WEILL_CORNELL_DGM ss1937469611 Feb 12, 2016 (147)
33 JJLAB ss2029511284 Sep 14, 2016 (149)
34 USC_VALOUEV ss2158020213 Dec 20, 2016 (150)
35 HUMAN_LONGEVITY ss2223579063 Dec 20, 2016 (150)
36 GRF ss2702623946 Nov 08, 2017 (151)
37 GNOMAD ss2959412730 Nov 08, 2017 (151)
38 SWEGEN ss3016931986 Nov 08, 2017 (151)
39 BIOINF_KMB_FNS_UNIBA ss3028588273 Nov 08, 2017 (151)
40 CSHL ss3352151314 Nov 08, 2017 (151)
41 URBANLAB ss3650849071 Oct 12, 2018 (152)
42 EGCUT_WGS ss3683783738 Jul 13, 2019 (153)
43 EVA_DECODE ss3702151238 Jul 13, 2019 (153)
44 ACPOP ss3742772492 Jul 13, 2019 (153)
45 EVA ss3755703577 Jul 13, 2019 (153)
46 PACBIO ss3788442878 Jul 13, 2019 (153)
47 PACBIO ss3793366413 Jul 13, 2019 (153)
48 PACBIO ss3798252992 Jul 13, 2019 (153)
49 KHV_HUMAN_GENOMES ss3820957748 Jul 13, 2019 (153)
50 EVA ss3835302410 Apr 27, 2020 (154)
51 EVA ss3841274061 Apr 27, 2020 (154)
52 EVA ss3846777721 Apr 27, 2020 (154)
53 SGDP_PRJ ss3887551034 Apr 27, 2020 (154)
54 KRGDB ss3937466380 Apr 27, 2020 (154)
55 KOGIC ss3980611453 Apr 27, 2020 (154)
56 TOPMED ss5065095050 Apr 26, 2021 (155)
57 TOMMO_GENOMICS ss5226273735 Apr 26, 2021 (155)
58 1000G_HIGH_COVERAGE ss5306152432 Oct 16, 2022 (156)
59 EVA ss5432996167 Oct 16, 2022 (156)
60 HUGCELL_USP ss5498836597 Oct 16, 2022 (156)
61 1000G_HIGH_COVERAGE ss5611422788 Oct 16, 2022 (156)
62 SANFORD_IMAGENETICS ss5661794116 Oct 16, 2022 (156)
63 TOMMO_GENOMICS ss5784383518 Oct 16, 2022 (156)
64 YY_MCH ss5817322663 Oct 16, 2022 (156)
65 EVA ss5840122612 Oct 16, 2022 (156)
66 EVA ss5852168458 Oct 16, 2022 (156)
67 EVA ss5926949431 Oct 16, 2022 (156)
68 EVA ss5953228560 Oct 16, 2022 (156)
69 EVA ss5981021242 Oct 16, 2022 (156)
70 1000Genomes NC_000019.9 - 259575 Oct 12, 2018 (152)
71 1000Genomes_30x NC_000019.10 - 259575 Oct 16, 2022 (156)
72 The Avon Longitudinal Study of Parents and Children NC_000019.9 - 259575 Oct 12, 2018 (152)
73 Genetic variation in the Estonian population NC_000019.9 - 259575 Oct 12, 2018 (152)
74 The Danish reference pan genome NC_000019.9 - 259575 Apr 27, 2020 (154)
75 gnomAD - Genomes NC_000019.10 - 259575 Apr 26, 2021 (155)
76 Genome of the Netherlands Release 5 NC_000019.9 - 259575 Apr 27, 2020 (154)
77 KOREAN population from KRGDB NC_000019.9 - 259575 Apr 27, 2020 (154)
78 Korean Genome Project NC_000019.10 - 259575 Apr 27, 2020 (154)
79 Northern Sweden NC_000019.9 - 259575 Jul 13, 2019 (153)
80 Qatari NC_000019.9 - 259575 Apr 27, 2020 (154)
81 SGDP_PRJ NC_000019.9 - 259575 Apr 27, 2020 (154)
82 Siberian NC_000019.9 - 259575 Apr 27, 2020 (154)
83 8.3KJPN NC_000019.9 - 259575 Apr 26, 2021 (155)
84 14KJPN NC_000019.10 - 259575 Oct 16, 2022 (156)
85 TopMed NC_000019.10 - 259575 Apr 26, 2021 (155)
86 UK 10K study - Twins NC_000019.9 - 259575 Oct 12, 2018 (152)
87 A Vietnamese Genetic Variation Database NC_000019.9 - 259575 Jul 13, 2019 (153)
88 ALFA NC_000019.10 - 259575 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
ss77230962, ss78122359, ss167624406, ss168827419, ss171369142, ss203566755, ss255419760, ss283092211, ss287331750, ss292171252, ss1698059275 NC_000019.8:210574:G:A NC_000019.10:259574:G:A (self)
75364843, 41781291, 29521986, 4706562, 18616228, 44643774, 16057357, 19511533, 39568014, 10536567, 84243042, 41781291, 9240222, ss340260955, ss565799036, ss661648861, ss993995714, ss1081702594, ss1362000618, ss1428306280, ss1578519173, ss1637405241, ss1680399274, ss1809165870, ss1937469611, ss2029511284, ss2158020213, ss2702623946, ss2959412730, ss3016931986, ss3352151314, ss3683783738, ss3742772492, ss3755703577, ss3788442878, ss3793366413, ss3798252992, ss3835302410, ss3841274061, ss3887551034, ss3937466380, ss5226273735, ss5432996167, ss5661794116, ss5840122612, ss5953228560, ss5981021242 NC_000019.9:259574:G:A NC_000019.10:259574:G:A (self)
98948723, 531474660, 36989454, 118220622, 280640714, 3648329486, ss2223579063, ss3028588273, ss3650849071, ss3702151238, ss3820957748, ss3846777721, ss3980611453, ss5065095050, ss5306152432, ss5498836597, ss5611422788, ss5784383518, ss5817322663, ss5852168458, ss5926949431 NC_000019.10:259574:G:A NC_000019.10:259574:G:A (self)
ss14013445, ss14714113, ss16793026, ss17616504, ss19399237, ss21516138, ss40991670, ss96284308, ss132739440 NT_011255.14:199574:G:A NC_000019.10:259574:G:A (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 rs9304892

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