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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.

rs11724582

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:122470309 (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=0.218437 (57818/264690, TOPMED)
G=0.217623 (30475/140036, GnomAD)
G=0.23316 (13256/56854, ALFA) (+ 19 more)
G=0.13490 (3812/28258, 14KJPN)
G=0.13574 (2275/16760, 8.3KJPN)
G=0.1657 (1061/6404, 1000G_30x)
G=0.1679 (841/5008, 1000G)
G=0.1846 (827/4480, Estonian)
G=0.2880 (1110/3854, ALSPAC)
G=0.3045 (1129/3708, TWINSUK)
G=0.0877 (257/2930, KOREAN)
G=0.1778 (336/1890, HapMap)
G=0.0846 (155/1832, Korea1K)
G=0.2694 (306/1136, Daghestan)
G=0.289 (288/998, GoNL)
G=0.174 (109/626, Chileans)
G=0.242 (145/600, NorthernSweden)
G=0.282 (61/216, Qatari)
G=0.179 (38/212, Vietnamese)
A=0.421 (64/152, SGDP_PRJ)
G=0.33 (13/40, GENOME_DK)
A=0.44 (7/16, 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 56854 A=0.76684 G=0.23316 0.592359 0.058677 0.348964 9
European Sub 36218 A=0.72864 G=0.27136 0.532498 0.075211 0.392291 1
African Sub 8238 A=0.8540 G=0.1460 0.730032 0.022093 0.247876 0
African Others Sub 274 A=0.887 G=0.113 0.788321 0.014599 0.19708 0
African American Sub 7964 A=0.8528 G=0.1472 0.728026 0.022351 0.249623 0
Asian Sub 488 A=0.838 G=0.162 0.709016 0.032787 0.258197 0
East Asian Sub 390 A=0.841 G=0.159 0.723077 0.041026 0.235897 2
Other Asian Sub 98 A=0.83 G=0.17 0.653061 0.0 0.346939 1
Latin American 1 Sub 716 A=0.775 G=0.225 0.608939 0.058659 0.332402 0
Latin American 2 Sub 7038 A=0.8691 G=0.1309 0.753907 0.015629 0.230463 0
South Asian Sub 176 A=0.869 G=0.131 0.761364 0.022727 0.215909 0
Other Sub 3980 A=0.7384 G=0.2616 0.541709 0.064824 0.393467 0


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=0.781563 G=0.218437
gnomAD - Genomes Global Study-wide 140036 A=0.782377 G=0.217623
gnomAD - Genomes European Sub 75834 A=0.73943 G=0.26057
gnomAD - Genomes African Sub 41980 A=0.85088 G=0.14912
gnomAD - Genomes American Sub 13620 A=0.80999 G=0.19001
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.7041 G=0.2959
gnomAD - Genomes East Asian Sub 3132 A=0.8691 G=0.1309
gnomAD - Genomes Other Sub 2148 A=0.7793 G=0.2207
Allele Frequency Aggregator Total Global 56854 A=0.76684 G=0.23316
Allele Frequency Aggregator European Sub 36218 A=0.72864 G=0.27136
Allele Frequency Aggregator African Sub 8238 A=0.8540 G=0.1460
Allele Frequency Aggregator Latin American 2 Sub 7038 A=0.8691 G=0.1309
Allele Frequency Aggregator Other Sub 3980 A=0.7384 G=0.2616
Allele Frequency Aggregator Latin American 1 Sub 716 A=0.775 G=0.225
Allele Frequency Aggregator Asian Sub 488 A=0.838 G=0.162
Allele Frequency Aggregator South Asian Sub 176 A=0.869 G=0.131
14KJPN JAPANESE Study-wide 28258 A=0.86510 G=0.13490
8.3KJPN JAPANESE Study-wide 16760 A=0.86426 G=0.13574
1000Genomes_30x Global Study-wide 6404 A=0.8343 G=0.1657
1000Genomes_30x African Sub 1786 A=0.8824 G=0.1176
1000Genomes_30x Europe Sub 1266 A=0.7291 G=0.2709
1000Genomes_30x South Asian Sub 1202 A=0.8536 G=0.1464
1000Genomes_30x East Asian Sub 1170 A=0.8462 G=0.1538
1000Genomes_30x American Sub 980 A=0.845 G=0.155
1000Genomes Global Study-wide 5008 A=0.8321 G=0.1679
1000Genomes African Sub 1322 A=0.8828 G=0.1172
1000Genomes East Asian Sub 1008 A=0.8413 G=0.1587
1000Genomes Europe Sub 1006 A=0.7286 G=0.2714
1000Genomes South Asian Sub 978 A=0.859 G=0.141
1000Genomes American Sub 694 A=0.834 G=0.166
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.8154 G=0.1846
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.7120 G=0.2880
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.6955 G=0.3045
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.9123 G=0.0877
HapMap Global Study-wide 1890 A=0.8222 G=0.1778
HapMap American Sub 770 A=0.839 G=0.161
HapMap African Sub 692 A=0.825 G=0.175
HapMap Asian Sub 252 A=0.865 G=0.135
HapMap Europe Sub 176 A=0.676 G=0.324
Korean Genome Project KOREAN Study-wide 1832 A=0.9154 G=0.0846
Genome-wide autozygosity in Daghestan Global Study-wide 1136 A=0.7306 G=0.2694
Genome-wide autozygosity in Daghestan Daghestan Sub 628 A=0.677 G=0.323
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=0.764 G=0.236
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.869 G=0.131
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.685 G=0.315
Genome-wide autozygosity in Daghestan South Asian Sub 98 A=0.88 G=0.12
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.81 G=0.19
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.711 G=0.289
Chileans Chilean Study-wide 626 A=0.826 G=0.174
Northern Sweden ACPOP Study-wide 600 A=0.758 G=0.242
Qatari Global Study-wide 216 A=0.718 G=0.282
A Vietnamese Genetic Variation Database Global Study-wide 212 A=0.821 G=0.179
SGDP_PRJ Global Study-wide 152 A=0.421 G=0.579
The Danish reference pan genome Danish Study-wide 40 A=0.68 G=0.33
Siberian Global Study-wide 16 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 4 NC_000004.12:g.122470309A>G
GRCh37.p13 chr 4 NC_000004.11:g.123391464A>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 4 NC_000004.12:g.122470309= NC_000004.12:g.122470309A>G
GRCh37.p13 chr 4 NC_000004.11:g.123391464= NC_000004.11:g.123391464A>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#.

80 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss17003615 Feb 28, 2004 (120)
2 SSAHASNP ss22108604 Apr 05, 2004 (121)
3 ABI ss44582831 Mar 14, 2006 (126)
4 AFFY ss66054297 Dec 01, 2006 (127)
5 JDRF_WT_DIL ss69356177 May 17, 2007 (127)
6 AFFY ss75964066 Dec 07, 2007 (129)
7 KRIBB_YJKIM ss82909981 Dec 14, 2007 (130)
8 HUMANGENOME_JCVI ss98859048 Feb 03, 2009 (130)
9 1000GENOMES ss108296599 Jan 23, 2009 (130)
10 1000GENOMES ss110518512 Jan 24, 2009 (130)
11 VANHEEL_LAB_LONDON ss120247387 Dec 01, 2009 (131)
12 WTCCC ss120253925 Dec 01, 2009 (131)
13 ENSEMBL ss135155659 Dec 01, 2009 (131)
14 ILLUMINA ss159997913 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss164235887 Jul 04, 2010 (132)
16 COMPLETE_GENOMICS ss167109382 Jul 04, 2010 (132)
17 AFFY ss169748766 Jul 04, 2010 (132)
18 BCM-HGSC-SUB ss206626808 Jul 04, 2010 (132)
19 1000GENOMES ss221185233 Jul 14, 2010 (132)
20 1000GENOMES ss232578277 Jul 14, 2010 (132)
21 1000GENOMES ss239828672 Jul 15, 2010 (132)
22 GMI ss277907734 May 04, 2012 (137)
23 PJP ss293178310 May 09, 2011 (134)
24 ILLUMINA ss480057394 Sep 08, 2015 (146)
25 TISHKOFF ss557821139 Apr 25, 2013 (138)
26 SSMP ss651630720 Apr 25, 2013 (138)
27 EVA-GONL ss980621986 Aug 21, 2014 (142)
28 JMKIDD_LAB ss1071915204 Aug 21, 2014 (142)
29 1000GENOMES ss1311611112 Aug 21, 2014 (142)
30 HAMMER_LAB ss1397387762 Sep 08, 2015 (146)
31 DDI ss1430033888 Apr 01, 2015 (144)
32 EVA_GENOME_DK ss1580754710 Apr 01, 2015 (144)
33 EVA_DECODE ss1590129802 Apr 01, 2015 (144)
34 EVA_UK10K_ALSPAC ss1611070144 Apr 01, 2015 (144)
35 EVA_UK10K_TWINSUK ss1654064177 Apr 01, 2015 (144)
36 EVA_SVP ss1712703718 Apr 01, 2015 (144)
37 WEILL_CORNELL_DGM ss1923864794 Feb 12, 2016 (147)
38 GENOMED ss1969855548 Jul 19, 2016 (147)
39 JJLAB ss2022515789 Sep 14, 2016 (149)
40 ILLUMINA ss2094936279 Dec 20, 2016 (150)
41 ILLUMINA ss2095149339 Dec 20, 2016 (150)
42 USC_VALOUEV ss2150646811 Dec 20, 2016 (150)
43 HUMAN_LONGEVITY ss2266726692 Dec 20, 2016 (150)
44 ILLUMINA ss2635136663 Nov 08, 2017 (151)
45 GRF ss2706130571 Nov 08, 2017 (151)
46 GNOMAD ss2814672657 Nov 08, 2017 (151)
47 SWEGEN ss2995471749 Nov 08, 2017 (151)
48 BIOINF_KMB_FNS_UNIBA ss3025034963 Nov 08, 2017 (151)
49 CSHL ss3345937417 Nov 08, 2017 (151)
50 ILLUMINA ss3636675133 Oct 12, 2018 (152)
51 URBANLAB ss3647837772 Oct 12, 2018 (152)
52 ILLUMINA ss3652900725 Oct 12, 2018 (152)
53 EGCUT_WGS ss3663374293 Jul 13, 2019 (153)
54 EVA_DECODE ss3712965256 Jul 13, 2019 (153)
55 ACPOP ss3731564080 Jul 13, 2019 (153)
56 EVA ss3762350895 Jul 13, 2019 (153)
57 PACBIO ss3784845919 Jul 13, 2019 (153)
58 PACBIO ss3790283957 Jul 13, 2019 (153)
59 PACBIO ss3795159416 Jul 13, 2019 (153)
60 KHV_HUMAN_GENOMES ss3805506033 Jul 13, 2019 (153)
61 EVA ss3828783394 Apr 26, 2020 (154)
62 EVA ss3837836220 Apr 26, 2020 (154)
63 EVA ss3843275406 Apr 26, 2020 (154)
64 SGDP_PRJ ss3859946452 Apr 26, 2020 (154)
65 KRGDB ss3906247327 Apr 26, 2020 (154)
66 KOGIC ss3955027531 Apr 26, 2020 (154)
67 TOPMED ss4630221232 Apr 26, 2021 (155)
68 TOMMO_GENOMICS ss5167775943 Apr 26, 2021 (155)
69 1000G_HIGH_COVERAGE ss5260843623 Oct 17, 2022 (156)
70 EVA ss5351971526 Oct 17, 2022 (156)
71 HUGCELL_USP ss5459420303 Oct 17, 2022 (156)
72 EVA ss5507709374 Oct 17, 2022 (156)
73 1000G_HIGH_COVERAGE ss5542806957 Oct 17, 2022 (156)
74 SANFORD_IMAGENETICS ss5635986798 Oct 17, 2022 (156)
75 TOMMO_GENOMICS ss5702703574 Oct 17, 2022 (156)
76 YY_MCH ss5805489654 Oct 17, 2022 (156)
77 EVA ss5844641465 Oct 17, 2022 (156)
78 EVA ss5854421269 Oct 17, 2022 (156)
79 EVA ss5865303566 Oct 17, 2022 (156)
80 EVA ss5964389480 Oct 17, 2022 (156)
81 1000Genomes NC_000004.11 - 123391464 Oct 12, 2018 (152)
82 1000Genomes_30x NC_000004.12 - 122470309 Oct 17, 2022 (156)
83 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 123391464 Oct 12, 2018 (152)
84 Chileans NC_000004.11 - 123391464 Apr 26, 2020 (154)
85 Genome-wide autozygosity in Daghestan NC_000004.10 - 123610914 Apr 26, 2020 (154)
86 Genetic variation in the Estonian population NC_000004.11 - 123391464 Oct 12, 2018 (152)
87 The Danish reference pan genome NC_000004.11 - 123391464 Apr 26, 2020 (154)
88 gnomAD - Genomes NC_000004.12 - 122470309 Apr 26, 2021 (155)
89 Genome of the Netherlands Release 5 NC_000004.11 - 123391464 Apr 26, 2020 (154)
90 HapMap NC_000004.12 - 122470309 Apr 26, 2020 (154)
91 KOREAN population from KRGDB NC_000004.11 - 123391464 Apr 26, 2020 (154)
92 Korean Genome Project NC_000004.12 - 122470309 Apr 26, 2020 (154)
93 Northern Sweden NC_000004.11 - 123391464 Jul 13, 2019 (153)
94 Qatari NC_000004.11 - 123391464 Apr 26, 2020 (154)
95 SGDP_PRJ NC_000004.11 - 123391464 Apr 26, 2020 (154)
96 Siberian NC_000004.11 - 123391464 Apr 26, 2020 (154)
97 8.3KJPN NC_000004.11 - 123391464 Apr 26, 2021 (155)
98 14KJPN NC_000004.12 - 122470309 Oct 17, 2022 (156)
99 TopMed NC_000004.12 - 122470309 Apr 26, 2021 (155)
100 UK 10K study - Twins NC_000004.11 - 123391464 Oct 12, 2018 (152)
101 A Vietnamese Genetic Variation Database NC_000004.11 - 123391464 Jul 13, 2019 (153)
102 ALFA NC_000004.12 - 122470309 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)
rs56998179 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
363108, ss108296599, ss110518512, ss159997913, ss164235887, ss167109382, ss206626808, ss277907734, ss293178310, ss1397387762, ss1590129802, ss1712703718, ss2094936279, ss2635136663 NC_000004.10:123610913:A:G NC_000004.12:122470308:A:G (self)
23078238, 12839430, 326142, 9112541, 6919649, 5681400, 13424721, 4848945, 5906724, 11963432, 3163165, 25745250, 12839430, 2825108, ss221185233, ss232578277, ss239828672, ss480057394, ss557821139, ss651630720, ss980621986, ss1071915204, ss1311611112, ss1430033888, ss1580754710, ss1611070144, ss1654064177, ss1923864794, ss1969855548, ss2022515789, ss2095149339, ss2150646811, ss2706130571, ss2814672657, ss2995471749, ss3345937417, ss3636675133, ss3652900725, ss3663374293, ss3731564080, ss3762350895, ss3784845919, ss3790283957, ss3795159416, ss3828783394, ss3837836220, ss3859946452, ss3906247327, ss5167775943, ss5351971526, ss5507709374, ss5635986798, ss5844641465, ss5964389480 NC_000004.11:123391463:A:G NC_000004.12:122470308:A:G (self)
30332892, 163482291, 2700896, 11405532, 36540678, 467598788, 14130860020, ss2266726692, ss3025034963, ss3647837772, ss3712965256, ss3805506033, ss3843275406, ss3955027531, ss4630221232, ss5260843623, ss5459420303, ss5542806957, ss5702703574, ss5805489654, ss5854421269, ss5865303566 NC_000004.12:122470308:A:G NC_000004.12:122470308:A:G (self)
ss17003615, ss22108604 NT_016354.16:47886594:A:G NC_000004.12:122470308:A:G (self)
ss44582831, ss66054297, ss69356177, ss75964066, ss82909981, ss98859048, ss120247387, ss120253925, ss135155659, ss169748766 NT_016354.19:47939184:A:G NC_000004.12:122470308: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 rs11724582

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.post820+afb47a3d