Name: rs202665
Published: September 21, 2022
License: Open Access

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 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr22:41418397 (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 / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.227651 (60257/264690, TOPMED)
A=0.04799 (1356/28258, 14KJPN)
A=0.04863 (815/16760, 8.3KJPN) (+ 16 more)
A=0.2512 (1923/7654, ALFA)
A=0.2327 (1490/6404, 1000G_30x)
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

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	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

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	A=0.227651	G=0.772349
14KJPN	JAPANESE	Study-wide	28258	A=0.04799	G=0.95201
8.3KJPN	JAPANESE	Study-wide	16760	A=0.04863	G=0.95137
Allele Frequency Aggregator	Total	Global	7654	A=0.2512	G=0.7488, T=0.0000
Allele Frequency Aggregator	European	Sub	6996	A=0.2210	G=0.7790, T=0.0000
Allele Frequency Aggregator	Other	Sub	262	A=0.359	G=0.641, T=0.000
Allele Frequency Aggregator	African	Sub	202	A=0.475	G=0.525, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	164	A=1.000	G=0.000, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	12	A=1.00	G=0.00, T=0.00
Allele Frequency Aggregator	Asian	Sub	10	A=0.6	G=0.4, T=0.0
Allele Frequency Aggregator	South Asian	Sub	8	A=0.6	G=0.4, T=0.0
1000Genomes_30x	Global	Study-wide	6404	A=0.2327	G=0.7673
1000Genomes_30x	African	Sub	1786	A=0.1333	G=0.8667
1000Genomes_30x	Europe	Sub	1266	A=0.2164	G=0.7836
1000Genomes_30x	South Asian	Sub	1202	A=0.3719	G=0.6281
1000Genomes_30x	East Asian	Sub	1170	A=0.0590	G=0.9410
1000Genomes_30x	American	Sub	980	A=0.471	G=0.529
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

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 22	NC_000022.11:g.41418397A>G
GRCh38.p14 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

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

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.p14 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

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#.

83 SubSNP, 21 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	SYSTEMSBIOZJU	ss2629622026	Nov 08, 2017 (151)
50	GRF	ss2704623953	Nov 08, 2017 (151)
51	GNOMAD	ss2974833301	Nov 08, 2017 (151)
52	SWEGEN	ss3019366964	Nov 08, 2017 (151)
53	BIOINF_KMB_FNS_UNIBA	ss3028961634	Nov 08, 2017 (151)
54	CSHL	ss3352853781	Nov 08, 2017 (151)
55	URBANLAB	ss3651186781	Oct 12, 2018 (152)
56	EGCUT_WGS	ss3685860062	Jul 13, 2019 (153)
57	EVA_DECODE	ss3708277692	Jul 13, 2019 (153)
58	ACPOP	ss3743965488	Jul 13, 2019 (153)
59	EVA	ss3759428872	Jul 13, 2019 (153)
60	PACBIO	ss3788836749	Jul 13, 2019 (153)
61	PACBIO	ss3793700297	Jul 13, 2019 (153)
62	PACBIO	ss3798586777	Jul 13, 2019 (153)
63	KHV_HUMAN_GENOMES	ss3822588835	Jul 13, 2019 (153)
64	EVA	ss3836010186	Apr 27, 2020 (154)
65	EVA	ss3841633511	Apr 27, 2020 (154)
66	EVA	ss3847148722	Apr 27, 2020 (154)
67	SGDP_PRJ	ss3890628088	Apr 27, 2020 (154)
68	KRGDB	ss3941021840	Apr 27, 2020 (154)
69	KOGIC	ss3983723230	Apr 27, 2020 (154)
70	TOPMED	ss5110595294	Apr 26, 2021 (155)
71	TOMMO_GENOMICS	ss5232812411	Apr 26, 2021 (155)
72	1000G_HIGH_COVERAGE	ss5311238199	Oct 16, 2022 (156)
73	EVA	ss5441555692	Oct 16, 2022 (156)
74	HUGCELL_USP	ss5503067532	Oct 16, 2022 (156)
75	EVA	ss5512390933	Oct 16, 2022 (156)
76	1000G_HIGH_COVERAGE	ss5618858876	Oct 16, 2022 (156)
77	SANFORD_IMAGENETICS	ss5664567497	Oct 16, 2022 (156)
78	TOMMO_GENOMICS	ss5793995637	Oct 16, 2022 (156)
79	YY_MCH	ss5818744449	Oct 16, 2022 (156)
80	EVA	ss5822124823	Oct 16, 2022 (156)
81	EVA	ss5853408397	Oct 16, 2022 (156)
82	EVA	ss5881975734	Oct 16, 2022 (156)
83	EVA	ss5959425639	Oct 16, 2022 (156)
84	1000Genomes	NC_000022.10 - 41814401	Oct 12, 2018 (152)
85	1000Genomes_30x	NC_000022.11 - 41418397	Oct 16, 2022 (156)
86	The Avon Longitudinal Study of Parents and Children	NC_000022.10 - 41814401	Oct 12, 2018 (152)
87	Genetic variation in the Estonian population	NC_000022.10 - 41814401	Oct 12, 2018 (152)
88	The Danish reference pan genome	NC_000022.10 - 41814401	Apr 27, 2020 (154)
89	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)
90	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)
91	Genome of the Netherlands Release 5	NC_000022.10 - 41814401	Apr 27, 2020 (154)
92	HapMap	NC_000022.11 - 41418397	Apr 27, 2020 (154)
93	KOREAN population from KRGDB	NC_000022.10 - 41814401	Apr 27, 2020 (154)
94	Korean Genome Project	NC_000022.11 - 41418397	Apr 27, 2020 (154)
95	Northern Sweden	NC_000022.10 - 41814401	Jul 13, 2019 (153)
96	Qatari	NC_000022.10 - 41814401	Apr 27, 2020 (154)
97	SGDP_PRJ	NC_000022.10 - 41814401	Apr 27, 2020 (154)
98	Siberian	NC_000022.10 - 41814401	Apr 27, 2020 (154)
99	8.3KJPN	NC_000022.10 - 41814401	Apr 26, 2021 (155)
100	14KJPN	NC_000022.11 - 41418397	Oct 16, 2022 (156)
101	TopMed	NC_000022.11 - 41418397	Apr 26, 2021 (155)
102	UK 10K study - Twins	NC_000022.10 - 41814401	Oct 12, 2018 (152)
103	A Vietnamese Genetic Variation Database	NC_000022.10 - 41814401	Jul 13, 2019 (153)
104	ALFA	NC_000022.11 - 41418397	Apr 26, 2021 (155)

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, ss2629622026, ss2704623953, ss2974833301, ss3019366964, ss3352853781, ss3685860062, ss3743965488, ss3759428872, ss3788836749, ss3793700297, ss3798586777, ss3836010186, ss3841633511, ss3890628088, ss3941021840, ss5232812411, ss5441555692, ss5512390933, ss5664567497, ss5822124823, ss5959425639	NC_000022.10:41814400:A:G	NC_000022.11:41418396:A:G	(self)
106384811, 2262657, 40101231, 127832741, 385704241, 2781889730, ss2247647100, ss3028961634, ss3651186781, ss3708277692, ss3822588835, ss3847148722, ss3983723230, ss5110595294, ss5311238199, ss5503067532, ss5618858876, ss5793995637, ss5818744449, ss5853408397, ss5881975734	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	NC_000022.11:41418396:A:T	NC_000022.11:41418396:A:T	(self)

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

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs202665