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.

rs11799294

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:4474800 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.141554 (37468/264690, TOPMED)
G=0.132469 (18565/140146, GnomAD)
G=0.13434 (3796/28256, 14KJPN) (+ 18 more)
G=0.12366 (2336/18890, ALFA)
G=0.13562 (2273/16760, 8.3KJPN)
G=0.1758 (1126/6404, 1000G_30x)
G=0.1787 (895/5008, 1000G)
G=0.1020 (457/4480, Estonian)
G=0.1201 (463/3854, ALSPAC)
G=0.1176 (436/3708, TWINSUK)
G=0.1348 (395/2930, KOREAN)
G=0.1365 (250/1832, Korea1K)
G=0.127 (127/998, GoNL)
G=0.138 (83/600, NorthernSweden)
G=0.119 (39/328, HapMap)
G=0.144 (31/216, Qatari)
G=0.168 (36/214, Vietnamese)
A=0.461 (82/178, SGDP_PRJ)
G=0.05 (4/76, Ancient Sardinia)
G=0.12 (5/40, GENOME_DK)
A=0.44 (8/18, Siberian)
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 A=0.87634 G=0.12366
European Sub 14286 A=0.89094 G=0.10906
African Sub 2946 A=0.8422 G=0.1578
African Others Sub 114 A=0.860 G=0.140
African American Sub 2832 A=0.8415 G=0.1585
Asian Sub 112 A=0.848 G=0.152
East Asian Sub 86 A=0.83 G=0.17
Other Asian Sub 26 A=0.92 G=0.08
Latin American 1 Sub 146 A=0.884 G=0.116
Latin American 2 Sub 610 A=0.770 G=0.230
South Asian Sub 98 A=0.77 G=0.23
Other Sub 692 A=0.832 G=0.168


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 A=0.858446 G=0.141554
gnomAD - Genomes Global Study-wide 140146 A=0.867531 G=0.132469
gnomAD - Genomes European Sub 75930 A=0.89010 G=0.10990
gnomAD - Genomes African Sub 41976 A=0.84501 G=0.15499
gnomAD - Genomes American Sub 13644 A=0.82344 G=0.17656
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.8221 G=0.1779
gnomAD - Genomes East Asian Sub 3130 A=0.8575 G=0.1425
gnomAD - Genomes Other Sub 2144 A=0.8750 G=0.1250
14KJPN JAPANESE Study-wide 28256 A=0.86566 G=0.13434
Allele Frequency Aggregator Total Global 18890 A=0.87634 G=0.12366
Allele Frequency Aggregator European Sub 14286 A=0.89094 G=0.10906
Allele Frequency Aggregator African Sub 2946 A=0.8422 G=0.1578
Allele Frequency Aggregator Other Sub 692 A=0.832 G=0.168
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.770 G=0.230
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.884 G=0.116
Allele Frequency Aggregator Asian Sub 112 A=0.848 G=0.152
Allele Frequency Aggregator South Asian Sub 98 A=0.77 G=0.23
8.3KJPN JAPANESE Study-wide 16760 A=0.86438 G=0.13562
1000Genomes_30x Global Study-wide 6404 A=0.8242 G=0.1758
1000Genomes_30x African Sub 1786 A=0.8108 G=0.1892
1000Genomes_30x Europe Sub 1266 A=0.8942 G=0.1058
1000Genomes_30x South Asian Sub 1202 A=0.7554 G=0.2446
1000Genomes_30x East Asian Sub 1170 A=0.8487 G=0.1513
1000Genomes_30x American Sub 980 A=0.813 G=0.187
1000Genomes Global Study-wide 5008 A=0.8213 G=0.1787
1000Genomes African Sub 1322 A=0.8079 G=0.1921
1000Genomes East Asian Sub 1008 A=0.8492 G=0.1508
1000Genomes Europe Sub 1006 A=0.8867 G=0.1133
1000Genomes South Asian Sub 978 A=0.749 G=0.251
1000Genomes American Sub 694 A=0.813 G=0.187
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.8980 G=0.1020
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.8799 G=0.1201
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.8824 G=0.1176
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.8652 G=0.1348
Korean Genome Project KOREAN Study-wide 1832 A=0.8635 G=0.1365
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.873 G=0.127
Northern Sweden ACPOP Study-wide 600 A=0.862 G=0.138
HapMap Global Study-wide 328 A=0.881 G=0.119
HapMap American Sub 120 A=0.925 G=0.075
HapMap African Sub 118 A=0.822 G=0.178
HapMap Asian Sub 90 A=0.90 G=0.10
Qatari Global Study-wide 216 A=0.856 G=0.144
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.832 G=0.168
SGDP_PRJ Global Study-wide 178 A=0.461 G=0.539
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 76 A=0.95 G=0.05
The Danish reference pan genome Danish Study-wide 40 A=0.88 G=0.12
Siberian Global Study-wide 18 A=0.44 G=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 1 NC_000001.11:g.4474800A>G
GRCh37.p13 chr 1 NC_000001.10:g.4534860A>G
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 A= G
GRCh38.p14 chr 1 NC_000001.11:g.4474800= NC_000001.11:g.4474800A>G
GRCh37.p13 chr 1 NC_000001.10:g.4534860= NC_000001.10:g.4534860A>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#.

59 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss17324193 Feb 28, 2004 (120)
2 SSAHASNP ss20429219 Apr 05, 2004 (121)
3 ABI ss41058796 Mar 13, 2006 (126)
4 HGSV ss79080616 Dec 07, 2007 (129)
5 HGSV ss85607187 Dec 16, 2007 (130)
6 HUMANGENOME_JCVI ss99181920 Feb 06, 2009 (130)
7 BGI ss105115588 Dec 01, 2009 (131)
8 ILLUMINA-UK ss118458889 Feb 14, 2009 (130)
9 ENSEMBL ss139712942 Dec 01, 2009 (131)
10 1000GENOMES ss218207427 Jul 14, 2010 (132)
11 1000GENOMES ss230407318 Jul 14, 2010 (132)
12 1000GENOMES ss238125860 Jul 15, 2010 (132)
13 GMI ss275694468 May 04, 2012 (137)
14 PJP ss290499749 May 09, 2011 (134)
15 TISHKOFF ss553740463 Apr 25, 2013 (138)
16 SSMP ss647541234 Apr 25, 2013 (138)
17 EVA-GONL ss974803085 Aug 21, 2014 (142)
18 JMKIDD_LAB ss1067632433 Aug 21, 2014 (142)
19 1000GENOMES ss1289474895 Aug 21, 2014 (142)
20 DDI ss1425695815 Apr 01, 2015 (144)
21 EVA_GENOME_DK ss1573863011 Apr 01, 2015 (144)
22 EVA_DECODE ss1584161750 Apr 01, 2015 (144)
23 EVA_UK10K_ALSPAC ss1599440066 Apr 01, 2015 (144)
24 EVA_UK10K_TWINSUK ss1642434099 Apr 01, 2015 (144)
25 HAMMER_LAB ss1793800970 Sep 08, 2015 (146)
26 WEILL_CORNELL_DGM ss1917999078 Feb 12, 2016 (147)
27 JJLAB ss2019515922 Sep 14, 2016 (149)
28 USC_VALOUEV ss2147506856 Dec 20, 2016 (150)
29 HUMAN_LONGEVITY ss2159620682 Dec 20, 2016 (150)
30 SYSTEMSBIOZJU ss2624273942 Nov 08, 2017 (151)
31 GRF ss2697401618 Nov 08, 2017 (151)
32 GNOMAD ss2751033162 Nov 08, 2017 (151)
33 SWEGEN ss2986211094 Nov 08, 2017 (151)
34 BIOINF_KMB_FNS_UNIBA ss3023521943 Nov 08, 2017 (151)
35 CSHL ss3343292680 Nov 08, 2017 (151)
36 URBANLAB ss3646588397 Oct 11, 2018 (152)
37 EGCUT_WGS ss3654312049 Jul 12, 2019 (153)
38 EVA_DECODE ss3686060075 Jul 12, 2019 (153)
39 ACPOP ss3726745849 Jul 12, 2019 (153)
40 EVA ss3745763629 Jul 12, 2019 (153)
41 KHV_HUMAN_GENOMES ss3798785058 Jul 12, 2019 (153)
42 EVA ss3825997646 Apr 25, 2020 (154)
43 SGDP_PRJ ss3848083319 Apr 25, 2020 (154)
44 KRGDB ss3892945823 Apr 25, 2020 (154)
45 KOGIC ss3943705787 Apr 25, 2020 (154)
46 EVA ss3984775419 Apr 25, 2021 (155)
47 TOPMED ss4437483063 Apr 25, 2021 (155)
48 TOMMO_GENOMICS ss5142228205 Apr 25, 2021 (155)
49 1000G_HIGH_COVERAGE ss5240988998 Oct 12, 2022 (156)
50 EVA ss5316410694 Oct 12, 2022 (156)
51 HUGCELL_USP ss5442212398 Oct 12, 2022 (156)
52 1000G_HIGH_COVERAGE ss5512663432 Oct 12, 2022 (156)
53 SANFORD_IMAGENETICS ss5624820954 Oct 12, 2022 (156)
54 TOMMO_GENOMICS ss5666450455 Oct 12, 2022 (156)
55 YY_MCH ss5800277743 Oct 12, 2022 (156)
56 EVA ss5831468558 Oct 12, 2022 (156)
57 EVA ss5848762497 Oct 12, 2022 (156)
58 EVA ss5906834395 Oct 12, 2022 (156)
59 EVA ss5936646132 Oct 12, 2022 (156)
60 1000Genomes NC_000001.10 - 4534860 Oct 11, 2018 (152)
61 1000Genomes_30x NC_000001.11 - 4474800 Oct 12, 2022 (156)
62 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 4534860 Oct 11, 2018 (152)
63 Genetic variation in the Estonian population NC_000001.10 - 4534860 Oct 11, 2018 (152)
64 The Danish reference pan genome NC_000001.10 - 4534860 Apr 25, 2020 (154)
65 gnomAD - Genomes NC_000001.11 - 4474800 Apr 25, 2021 (155)
66 Genome of the Netherlands Release 5 NC_000001.10 - 4534860 Apr 25, 2020 (154)
67 HapMap NC_000001.11 - 4474800 Apr 25, 2020 (154)
68 KOREAN population from KRGDB NC_000001.10 - 4534860 Apr 25, 2020 (154)
69 Korean Genome Project NC_000001.11 - 4474800 Apr 25, 2020 (154)
70 Northern Sweden NC_000001.10 - 4534860 Jul 12, 2019 (153)
71 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 4534860 Apr 25, 2021 (155)
72 Qatari NC_000001.10 - 4534860 Apr 25, 2020 (154)
73 SGDP_PRJ NC_000001.10 - 4534860 Apr 25, 2020 (154)
74 Siberian NC_000001.10 - 4534860 Apr 25, 2020 (154)
75 8.3KJPN NC_000001.10 - 4534860 Apr 25, 2021 (155)
76 14KJPN NC_000001.11 - 4474800 Oct 12, 2022 (156)
77 TopMed NC_000001.11 - 4474800 Apr 25, 2021 (155)
78 UK 10K study - Twins NC_000001.10 - 4534860 Oct 11, 2018 (152)
79 A Vietnamese Genetic Variation Database NC_000001.10 - 4534860 Jul 12, 2019 (153)
80 ALFA NC_000001.11 - 4474800 Apr 25, 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)
rs61469350 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss79080616, ss85607187 NC_000001.8:4445232:A:G NC_000001.11:4474799:A:G (self)
ss118458889, ss275694468, ss290499749, ss1584161750 NC_000001.9:4434719:A:G NC_000001.11:4474799:A:G (self)
143728, 67367, 50297, 1370245, 29545, 123217, 30714, 1346, 41008, 100299, 23210, 197512, 67367, 14831, ss218207427, ss230407318, ss238125860, ss553740463, ss647541234, ss974803085, ss1067632433, ss1289474895, ss1425695815, ss1573863011, ss1599440066, ss1642434099, ss1793800970, ss1917999078, ss2019515922, ss2147506856, ss2624273942, ss2697401618, ss2751033162, ss2986211094, ss3343292680, ss3654312049, ss3726745849, ss3745763629, ss3825997646, ss3848083319, ss3892945823, ss3984775419, ss5142228205, ss5316410694, ss5624820954, ss5831468558, ss5936646132 NC_000001.10:4534859:A:G NC_000001.11:4474799:A:G (self)
189367, 1015565, 4185, 83788, 287559, 1089398, 266571456, ss2159620682, ss3023521943, ss3646588397, ss3686060075, ss3798785058, ss3943705787, ss4437483063, ss5240988998, ss5442212398, ss5512663432, ss5666450455, ss5800277743, ss5848762497, ss5906834395 NC_000001.11:4474799:A:G NC_000001.11:4474799:A:G (self)
ss17324193, ss20429219 NT_004547.16:538492:A:G NC_000001.11:4474799:A:G (self)
ss41058796, ss99181920, ss105115588, ss139712942 NT_021937.19:539591:A:G NC_000001.11:4474799:A:G (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 rs11799294

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