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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.

rs202665

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr22:41418397 (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
A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.227651 (60257/264690, TOPMED)
A=0.04863 (815/16760, 8.3KJPN)
A=0.2512 (1923/7654, ALFA) (+ 14 more)
A=0.2280 (1142/5008, 1000G)
A=0.1721 (771/4480, Estonian)
A=0.2063 (795/3854, ALSPAC)
A=0.2063 (765/3708, TWINSUK)
A=0.0437 (128/2930, KOREAN)
A=0.0371 (68/1832, Korea1K)
A=0.192 (192/998, GoNL)
A=0.207 (124/600, NorthernSweden)
A=0.156 (80/512, SGDP_PRJ)
A=0.278 (60/216, Qatari)
A=0.080 (17/212, Vietnamese)
A=0.072 (15/208, HapMap)
A=0.17 (9/54, Siberian)
A=0.17 (7/40, 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 22 NC_000022.11:g.41418397A>G
GRCh38.p13 chr 22 NC_000022.11:g.41418397A>T
GRCh37.p13 chr 22 NC_000022.10:g.41814401A>G
GRCh37.p13 chr 22 NC_000022.10:g.41814401A>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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 7654 A=0.2512 G=0.7488, T=0.0000
European Sub 6996 A=0.2210 G=0.7790, T=0.0000
African Sub 202 A=0.475 G=0.525, T=0.000
African Others Sub 8 A=0.5 G=0.5, T=0.0
African American Sub 194 A=0.474 G=0.526, T=0.000
Asian Sub 10 A=0.6 G=0.4, T=0.0
East Asian Sub 8 A=0.8 G=0.2, T=0.0
Other Asian Sub 2 A=0.0 G=1.0, T=0.0
Latin American 1 Sub 12 A=1.00 G=0.00, T=0.00
Latin American 2 Sub 164 A=1.000 G=0.000, T=0.000
South Asian Sub 8 A=0.6 G=0.4, T=0.0
Other Sub 262 A=0.359 G=0.641, T=0.000


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=0.227651 G=0.772349
8.3KJPN JAPANESE Study-wide 16760 A=0.04863 G=0.95137
1000Genomes Global Study-wide 5008 A=0.2280 G=0.7720
1000Genomes African Sub 1322 A=0.1422 G=0.8578
1000Genomes East Asian Sub 1008 A=0.0565 G=0.9435
1000Genomes Europe Sub 1006 A=0.2157 G=0.7843
1000Genomes South Asian Sub 978 A=0.373 G=0.627
1000Genomes American Sub 694 A=0.454 G=0.546
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.1721 G=0.8279
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.2063 G=0.7937
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.2063 G=0.7937
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.0437 G=0.9563, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 A=0.0371 G=0.9629
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.192 G=0.808
Northern Sweden ACPOP Study-wide 600 A=0.207 G=0.793
SGDP_PRJ Global Study-wide 512 A=0.156 G=0.844
Qatari Global Study-wide 216 A=0.278 G=0.722
A Vietnamese Genetic Variation Database Global Study-wide 212 A=0.080 G=0.920
HapMap Global Study-wide 208 A=0.072 G=0.928
HapMap African Sub 120 A=0.092 G=0.908
HapMap Asian Sub 88 A=0.05 G=0.95
Siberian Global Study-wide 54 A=0.17 G=0.83
The Danish reference pan genome Danish Study-wide 40 A=0.17 G=0.82
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 T
GRCh38.p13 chr 22 NC_000022.11:g.41418397= NC_000022.11:g.41418397A>G NC_000022.11:g.41418397A>T
GRCh37.p13 chr 22 NC_000022.10:g.41814401= NC_000022.10:g.41814401A>G NC_000022.10:g.41814401A>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#.

74 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss265936 Jul 12, 2000 (79)
2 SC_JCM ss540467 Jul 16, 2000 (80)
3 KWOK ss1249712 Oct 04, 2000 (86)
4 KWOK ss2050261 Oct 18, 2000 (87)
5 SC_SNP ss8298447 Apr 21, 2003 (114)
6 BCM_SSAHASNP ss11005450 Jul 11, 2003 (116)
7 WI_SSAHASNP ss12528626 Jul 11, 2003 (116)
8 SC_SNP ss13351205 Dec 05, 2003 (119)
9 CSHL-HAPMAP ss16922914 Feb 27, 2004 (120)
10 CSHL-HAPMAP ss17717099 Feb 27, 2004 (120)
11 SSAHASNP ss21844334 Apr 05, 2004 (121)
12 PERLEGEN ss24543457 Sep 20, 2004 (123)
13 KRIBB_YJKIM ss80750566 Dec 15, 2007 (130)
14 BCMHGSC_JDW ss91929701 Mar 24, 2008 (129)
15 HUMANGENOME_JCVI ss96102160 Feb 06, 2009 (130)
16 BGI ss106228495 Feb 06, 2009 (130)
17 1000GENOMES ss112668038 Jan 25, 2009 (130)
18 1000GENOMES ss114250231 Jan 25, 2009 (130)
19 ILLUMINA-UK ss117415099 Feb 14, 2009 (130)
20 ENSEMBL ss144190597 Dec 01, 2009 (131)
21 GMI ss157212166 Dec 01, 2009 (131)
22 COMPLETE_GENOMICS ss168000268 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss169343495 Jul 04, 2010 (132)
24 BUSHMAN ss204098483 Jul 04, 2010 (132)
25 BCM-HGSC-SUB ss208838870 Jul 04, 2010 (132)
26 1000GENOMES ss228696476 Jul 14, 2010 (132)
27 1000GENOMES ss238080741 Jul 15, 2010 (132)
28 1000GENOMES ss244196384 Jul 15, 2010 (132)
29 BL ss255925923 May 09, 2011 (134)
30 GMI ss283647717 May 04, 2012 (137)
31 GMI ss287574502 Apr 25, 2013 (138)
32 PJP ss292767159 May 09, 2011 (134)
33 TISHKOFF ss566664233 Apr 25, 2013 (138)
34 SSMP ss662593608 Apr 25, 2013 (138)
35 EVA-GONL ss995389013 Aug 21, 2014 (142)
36 JMKIDD_LAB ss1082684629 Aug 21, 2014 (142)
37 1000GENOMES ss1367317078 Aug 21, 2014 (142)
38 DDI ss1429267019 Apr 01, 2015 (144)
39 EVA_GENOME_DK ss1579765766 Apr 01, 2015 (144)
40 EVA_UK10K_ALSPAC ss1640073781 Apr 01, 2015 (144)
41 EVA_UK10K_TWINSUK ss1683067814 Apr 01, 2015 (144)
42 EVA_DECODE ss1699460310 Apr 01, 2015 (144)
43 HAMMER_LAB ss1809804650 Sep 08, 2015 (146)
44 WEILL_CORNELL_DGM ss1938956757 Feb 12, 2016 (147)
45 GENOMED ss1969278841 Jul 19, 2016 (147)
46 JJLAB ss2030250868 Sep 14, 2016 (149)
47 USC_VALOUEV ss2158871042 Dec 20, 2016 (150)
48 HUMAN_LONGEVITY ss2247647100 Dec 20, 2016 (150)
49 TOPMED ss2414631845 Dec 20, 2016 (150)
50 SYSTEMSBIOZJU ss2629622026 Nov 08, 2017 (151)
51 GRF ss2704623953 Nov 08, 2017 (151)
52 GNOMAD ss2974833301 Nov 08, 2017 (151)
53 SWEGEN ss3019366964 Nov 08, 2017 (151)
54 BIOINF_KMB_FNS_UNIBA ss3028961634 Nov 08, 2017 (151)
55 CSHL ss3352853781 Nov 08, 2017 (151)
56 TOPMED ss3378202756 Nov 08, 2017 (151)
57 TOPMED ss3378202757 Nov 08, 2017 (151)
58 URBANLAB ss3651186781 Oct 12, 2018 (152)
59 EGCUT_WGS ss3685860062 Jul 13, 2019 (153)
60 EVA_DECODE ss3708277692 Jul 13, 2019 (153)
61 ACPOP ss3743965488 Jul 13, 2019 (153)
62 EVA ss3759428872 Jul 13, 2019 (153)
63 PACBIO ss3788836749 Jul 13, 2019 (153)
64 PACBIO ss3793700297 Jul 13, 2019 (153)
65 PACBIO ss3798586777 Jul 13, 2019 (153)
66 KHV_HUMAN_GENOMES ss3822588835 Jul 13, 2019 (153)
67 EVA ss3836010186 Apr 27, 2020 (154)
68 EVA ss3841633511 Apr 27, 2020 (154)
69 EVA ss3847148722 Apr 27, 2020 (154)
70 SGDP_PRJ ss3890628088 Apr 27, 2020 (154)
71 KRGDB ss3941021840 Apr 27, 2020 (154)
72 KOGIC ss3983723230 Apr 27, 2020 (154)
73 TOPMED ss5110595294 Apr 26, 2021 (155)
74 TOMMO_GENOMICS ss5232812411 Apr 26, 2021 (155)
75 1000Genomes NC_000022.10 - 41814401 Oct 12, 2018 (152)
76 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 41814401 Oct 12, 2018 (152)
77 Genetic variation in the Estonian population NC_000022.10 - 41814401 Oct 12, 2018 (152)
78 The Danish reference pan genome NC_000022.10 - 41814401 Apr 27, 2020 (154)
79 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 571115855 (NC_000022.11:41418396:A:G 110455/140082)
Row 571115856 (NC_000022.11:41418396:A:T 2/140116)

- Apr 26, 2021 (155)
80 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 571115855 (NC_000022.11:41418396:A:G 110455/140082)
Row 571115856 (NC_000022.11:41418396:A:T 2/140116)

- Apr 26, 2021 (155)
81 Genome of the Netherlands Release 5 NC_000022.10 - 41814401 Apr 27, 2020 (154)
82 HapMap NC_000022.11 - 41418397 Apr 27, 2020 (154)
83 KOREAN population from KRGDB NC_000022.10 - 41814401 Apr 27, 2020 (154)
84 Korean Genome Project NC_000022.11 - 41418397 Apr 27, 2020 (154)
85 Northern Sweden NC_000022.10 - 41814401 Jul 13, 2019 (153)
86 Qatari NC_000022.10 - 41814401 Apr 27, 2020 (154)
87 SGDP_PRJ NC_000022.10 - 41814401 Apr 27, 2020 (154)
88 Siberian NC_000022.10 - 41814401 Apr 27, 2020 (154)
89 8.3KJPN NC_000022.10 - 41814401 Apr 26, 2021 (155)
90 TopMed NC_000022.11 - 41418397 Apr 26, 2021 (155)
91 UK 10K study - Twins NC_000022.10 - 41814401 Oct 12, 2018 (152)
92 A Vietnamese Genetic Variation Database NC_000022.10 - 41814401 Jul 13, 2019 (153)
93 ALFA NC_000022.11 - 41418397 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)
rs17444811 Oct 07, 2004 (123)
rs60702018 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss91929701, ss112668038, ss114250231, ss117415099, ss168000268, ss169343495, ss204098483, ss208838870, ss255925923, ss283647717, ss287574502, ss292767159, ss1699460310 NC_000022.9:40144346:A:G NC_000022.11:41418396:A:G (self)
80874786, 44736515, 31598310, 5930705, 19931424, 48199234, 17250353, 20998679, 42645068, 11387396, 90781718, 44736515, 9866662, ss228696476, ss238080741, ss244196384, ss566664233, ss662593608, ss995389013, ss1082684629, ss1367317078, ss1429267019, ss1579765766, ss1640073781, ss1683067814, ss1809804650, ss1938956757, ss1969278841, ss2030250868, ss2158871042, ss2414631845, ss2629622026, ss2704623953, ss2974833301, ss3019366964, ss3352853781, ss3685860062, ss3743965488, ss3759428872, ss3788836749, ss3793700297, ss3798586777, ss3836010186, ss3841633511, ss3890628088, ss3941021840, ss5232812411 NC_000022.10:41814400:A:G NC_000022.11:41418396:A:G (self)
2262657, 40101231, 240942271, 385704241, 2781889730, ss2247647100, ss3028961634, ss3378202756, ss3651186781, ss3708277692, ss3822588835, ss3847148722, ss3983723230, ss5110595294 NC_000022.11:41418396:A:G NC_000022.11:41418396:A:G (self)
ss11005450, ss12528626, ss13351205, ss16922914, ss17717099, ss21844334 NT_011520.9:21123454:A:G NC_000022.11:41418396:A:G (self)
ss265936, ss540467, ss1249712, ss2050261, ss8298447, ss24543457, ss80750566, ss96102160, ss106228495, ss144190597, ss157212166 NT_011520.12:21204969:A:G NC_000022.11:41418396:A:G (self)
48199234, ss3941021840 NC_000022.10:41814400:A:T NC_000022.11:41418396:A:T (self)
2781889730, ss3378202757 NC_000022.11:41418396:A:T NC_000022.11:41418396:A: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 rs202665

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