Name: rs132906
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.

rs132906

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr22:41403763 (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 / G>C / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.420647 (111341/264690, TOPMED)
G=0.387189 (54174/139916, GnomAD)
G=0.33941 (9591/28258, 14KJPN) (+ 15 more)
G=0.34487 (5780/16760, 8.3KJPN)
G=0.3888 (3504/9012, ALFA)
C=0.4902 (3139/6404, 1000G_30x)
C=0.4972 (2490/5008, 1000G)
G=0.1935 (867/4480, Estonian)
G=0.2268 (874/3854, ALSPAC)
G=0.2317 (859/3708, TWINSUK)
G=0.4304 (1261/2930, KOREAN)
G=0.4312 (790/1832, Korea1K)
G=0.216 (216/998, GoNL)
G=0.242 (145/600, NorthernSweden)
G=0.242 (100/414, SGDP_PRJ)
G=0.435 (94/216, Qatari)
G=0.22 (11/50, Siberian)
G=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	9012	G=0.3888	A=0.0000, C=0.6112, T=0.0000
European	Sub	7066	G=0.2482	A=0.0000, C=0.7518, T=0.0000
African	Sub	1292	G=0.9636	A=0.0000, C=0.0364, T=0.0000
African Others	Sub	48	G=0.98	A=0.00, C=0.02, T=0.00
African American	Sub	1244	G=0.9630	A=0.0000, C=0.0370, T=0.0000
Asian	Sub	50	G=0.96	A=0.00, C=0.04, T=0.00
East Asian	Sub	36	G=0.97	A=0.00, C=0.03, T=0.00
Other Asian	Sub	14	G=0.93	A=0.00, C=0.07, T=0.00
Latin American 1	Sub	38	G=1.00	A=0.00, C=0.00, T=0.00
Latin American 2	Sub	226	G=1.000	A=0.000, C=0.000, T=0.000
South Asian	Sub	8	G=0.6	A=0.0, C=0.4, T=0.0
Other	Sub	332	G=0.566	A=0.000, C=0.434, 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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	G=0.420647	C=0.579353
gnomAD - Genomes	Global	Study-wide	139916	G=0.387189	C=0.612811
gnomAD - Genomes	European	Sub	75852	G=0.22694	C=0.77306
gnomAD - Genomes	African	Sub	41886	G=0.63303	C=0.36697
gnomAD - Genomes	American	Sub	13596	G=0.50456	C=0.49544
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.3170	C=0.6830
gnomAD - Genomes	East Asian	Sub	3112	G=0.5476	C=0.4524
gnomAD - Genomes	Other	Sub	2148	G=0.3855	C=0.6145
14KJPN	JAPANESE	Study-wide	28258	G=0.33941	C=0.66059
8.3KJPN	JAPANESE	Study-wide	16760	G=0.34487	C=0.65513
Allele Frequency Aggregator	Total	Global	9012	G=0.3888	A=0.0000, C=0.6112, T=0.0000
Allele Frequency Aggregator	European	Sub	7066	G=0.2482	A=0.0000, C=0.7518, T=0.0000
Allele Frequency Aggregator	African	Sub	1292	G=0.9636	A=0.0000, C=0.0364, T=0.0000
Allele Frequency Aggregator	Other	Sub	332	G=0.566	A=0.000, C=0.434, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	226	G=1.000	A=0.000, C=0.000, T=0.000
Allele Frequency Aggregator	Asian	Sub	50	G=0.96	A=0.00, C=0.04, T=0.00
Allele Frequency Aggregator	Latin American 1	Sub	38	G=1.00	A=0.00, C=0.00, T=0.00
Allele Frequency Aggregator	South Asian	Sub	8	G=0.6	A=0.0, C=0.4, T=0.0
1000Genomes_30x	Global	Study-wide	6404	G=0.5098	C=0.4902
1000Genomes_30x	African	Sub	1786	G=0.6837	C=0.3163
1000Genomes_30x	Europe	Sub	1266	G=0.2449	C=0.7551
1000Genomes_30x	South Asian	Sub	1202	G=0.4185	C=0.5815
1000Genomes_30x	East Asian	Sub	1170	G=0.5641	C=0.4359
1000Genomes_30x	American	Sub	980	G=0.583	C=0.417
1000Genomes	Global	Study-wide	5008	G=0.5028	C=0.4972
1000Genomes	African	Sub	1322	G=0.6861	C=0.3139
1000Genomes	East Asian	Sub	1008	G=0.5655	C=0.4345
1000Genomes	Europe	Sub	1006	G=0.2416	C=0.7584
1000Genomes	South Asian	Sub	978	G=0.410	C=0.590
1000Genomes	American	Sub	694	G=0.572	C=0.428
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.1935	C=0.8065
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.2268	C=0.7732
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.2317	C=0.7683
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.4304	C=0.5696, T=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	G=0.4312	C=0.5688
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.216	C=0.784
Northern Sweden	ACPOP	Study-wide	600	G=0.242	C=0.758
SGDP_PRJ	Global	Study-wide	414	G=0.242	C=0.758
Qatari	Global	Study-wide	216	G=0.435	C=0.565
Siberian	Global	Study-wide	50	G=0.22	C=0.78
The Danish reference pan genome	Danish	Study-wide	40	G=0.17	C=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.41403763G>A
GRCh38.p14 chr 22	NC_000022.11:g.41403763G>C
GRCh38.p14 chr 22	NC_000022.11:g.41403763G>T
GRCh37.p13 chr 22	NC_000022.10:g.41799767G>A
GRCh37.p13 chr 22	NC_000022.10:g.41799767G>C
GRCh37.p13 chr 22	NC_000022.10:g.41799767G>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	G=	A	C	T
GRCh38.p14 chr 22	NC_000022.11:g.41403763=	NC_000022.11:g.41403763G>A	NC_000022.11:g.41403763G>C	NC_000022.11:g.41403763G>T
GRCh37.p13 chr 22	NC_000022.10:g.41799767=	NC_000022.10:g.41799767G>A	NC_000022.10:g.41799767G>C	NC_000022.10:g.41799767G>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#.

79 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC	ss140712	Jun 24, 2000 (78)
2	KWOK	ss265913	Jul 10, 2000 (79)
3	KWOK	ss1249699	Oct 04, 2000 (86)
4	KWOK	ss2050238	Oct 18, 2000 (87)
5	SC_SNP	ss13361935	Dec 05, 2003 (119)
6	CSHL-HAPMAP	ss16919661	Feb 27, 2004 (120)
7	CSHL-HAPMAP	ss17715259	Feb 27, 2004 (120)
8	CSHL-HAPMAP	ss20139534	Feb 27, 2004 (120)
9	SSAHASNP	ss21851153	Apr 05, 2004 (121)
10	PERLEGEN	ss24083046	Sep 20, 2004 (123)
11	ABI	ss41505439	Mar 15, 2006 (126)
12	HGSV	ss77509965	Dec 06, 2007 (129)
13	KRIBB_YJKIM	ss80750532	Dec 15, 2007 (130)
14	BCMHGSC_JDW	ss91929644	Mar 24, 2008 (129)
15	HUMANGENOME_JCVI	ss96102136	Feb 06, 2009 (130)
16	BGI	ss106228476	Feb 06, 2009 (130)
17	1000GENOMES	ss112667956	Jan 25, 2009 (130)
18	ENSEMBL	ss133856167	Dec 01, 2009 (131)
19	ENSEMBL	ss138359788	Dec 01, 2009 (131)
20	COMPLETE_GENOMICS	ss167999886	Jul 04, 2010 (132)
21	COMPLETE_GENOMICS	ss172005673	Jul 04, 2010 (132)
22	BCM-HGSC-SUB	ss208828396	Jul 04, 2010 (132)
23	1000GENOMES	ss228696437	Jul 14, 2010 (132)
24	1000GENOMES	ss238080714	Jul 15, 2010 (132)
25	1000GENOMES	ss244196361	Jul 15, 2010 (132)
26	BL	ss255925735	May 09, 2011 (134)
27	GMI	ss283647678	May 04, 2012 (137)
28	GMI	ss287574474	Apr 25, 2013 (138)
29	PJP	ss292767129	May 09, 2011 (134)
30	TISHKOFF	ss566664173	Apr 25, 2013 (138)
31	SSMP	ss662593539	Apr 25, 2013 (138)
32	EVA-GONL	ss995388916	Aug 21, 2014 (142)
33	JMKIDD_LAB	ss1082684560	Aug 21, 2014 (142)
34	1000GENOMES	ss1367316706	Aug 21, 2014 (142)
35	DDI	ss1429266988	Apr 01, 2015 (144)
36	EVA_GENOME_DK	ss1579765729	Apr 01, 2015 (144)
37	EVA_UK10K_ALSPAC	ss1640073594	Apr 01, 2015 (144)
38	EVA_UK10K_TWINSUK	ss1683067627	Apr 01, 2015 (144)
39	EVA_DECODE	ss1699460208	Apr 01, 2015 (144)
40	HAMMER_LAB	ss1809804600	Sep 08, 2015 (146)
41	WEILL_CORNELL_DGM	ss1938956660	Feb 12, 2016 (147)
42	GENOMED	ss1969278828	Jul 19, 2016 (147)
43	JJLAB	ss2030250819	Sep 14, 2016 (149)
44	USC_VALOUEV	ss2158870981	Dec 20, 2016 (150)
45	HUMAN_LONGEVITY	ss2247646214	Dec 20, 2016 (150)
46	SYSTEMSBIOZJU	ss2629621992	Nov 08, 2017 (151)
47	GRF	ss2704623886	Nov 08, 2017 (151)
48	GNOMAD	ss2974831979	Nov 08, 2017 (151)
49	SWEGEN	ss3019366779	Nov 08, 2017 (151)
50	BIOINF_KMB_FNS_UNIBA	ss3028961611	Nov 08, 2017 (151)
51	CSHL	ss3352853743	Nov 08, 2017 (151)
52	URBANLAB	ss3651186744	Oct 12, 2018 (152)
53	EGCUT_WGS	ss3685859893	Jul 13, 2019 (153)
54	EVA_DECODE	ss3708277467	Jul 13, 2019 (153)
55	ACPOP	ss3743965411	Jul 13, 2019 (153)
56	EVA	ss3759428752	Jul 13, 2019 (153)
57	PACBIO	ss3788836709	Jul 13, 2019 (153)
58	PACBIO	ss3793700257	Jul 13, 2019 (153)
59	PACBIO	ss3798586739	Jul 13, 2019 (153)
60	KHV_HUMAN_GENOMES	ss3822588718	Jul 13, 2019 (153)
61	EVA	ss3836010133	Apr 27, 2020 (154)
62	EVA	ss3841633478	Apr 27, 2020 (154)
63	EVA	ss3847148689	Apr 27, 2020 (154)
64	SGDP_PRJ	ss3890627881	Apr 27, 2020 (154)
65	KRGDB	ss3941021542	Apr 27, 2020 (154)
66	KOGIC	ss3983722975	Apr 27, 2020 (154)
67	TOPMED	ss5110591390	Apr 26, 2021 (155)
68	TOMMO_GENOMICS	ss5232811827	Apr 26, 2021 (155)
69	1000G_HIGH_COVERAGE	ss5311237840	Oct 16, 2022 (156)
70	HUGCELL_USP	ss5503067249	Oct 16, 2022 (156)
71	EVA	ss5512390887	Oct 16, 2022 (156)
72	1000G_HIGH_COVERAGE	ss5618858323	Oct 16, 2022 (156)
73	SANFORD_IMAGENETICS	ss5664567283	Oct 16, 2022 (156)
74	TOMMO_GENOMICS	ss5793994847	Oct 16, 2022 (156)
75	YY_MCH	ss5818744368	Oct 16, 2022 (156)
76	EVA	ss5822124702	Oct 16, 2022 (156)
77	EVA	ss5853408353	Oct 16, 2022 (156)
78	EVA	ss5881975357	Oct 16, 2022 (156)
79	EVA	ss5959425455	Oct 16, 2022 (156)
80	1000Genomes	NC_000022.10 - 41799767	Oct 12, 2018 (152)
81	1000Genomes_30x	NC_000022.11 - 41403763	Oct 16, 2022 (156)
82	The Avon Longitudinal Study of Parents and Children	NC_000022.10 - 41799767	Oct 12, 2018 (152)
83	Genetic variation in the Estonian population	NC_000022.10 - 41799767	Oct 12, 2018 (152)
84	The Danish reference pan genome	NC_000022.10 - 41799767	Apr 27, 2020 (154)
85	gnomAD - Genomes	NC_000022.11 - 41403763	Apr 26, 2021 (155)
86	Genome of the Netherlands Release 5	NC_000022.10 - 41799767	Apr 27, 2020 (154)
87	KOREAN population from KRGDB	NC_000022.10 - 41799767	Apr 27, 2020 (154)
88	Korean Genome Project	NC_000022.11 - 41403763	Apr 27, 2020 (154)
89	Northern Sweden	NC_000022.10 - 41799767	Jul 13, 2019 (153)
90	Qatari	NC_000022.10 - 41799767	Apr 27, 2020 (154)
91	SGDP_PRJ	NC_000022.10 - 41799767	Apr 27, 2020 (154)
92	Siberian	NC_000022.10 - 41799767	Apr 27, 2020 (154)
93	8.3KJPN	NC_000022.10 - 41799767	Apr 26, 2021 (155)
94	14KJPN	NC_000022.11 - 41403763	Oct 16, 2022 (156)
95	TopMed	NC_000022.11 - 41403763	Apr 26, 2021 (155)
96	UK 10K study - Twins	NC_000022.10 - 41799767	Oct 12, 2018 (152)
97	ALFA	NC_000022.11 - 41403763	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)
rs60398176	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
1092720734	NC_000022.11:41403762:G:A	NC_000022.11:41403762:G:A	(self)
ss77509965	NC_000022.8:40124266:G:C	NC_000022.11:41403762:G:C	(self)
ss91929644, ss112667956, ss167999886, ss172005673, ss208828396, ss255925735, ss283647678, ss287574474, ss292767129, ss1699460208	NC_000022.9:40129712:G:C	NC_000022.11:41403762:G:C	(self)
80874404, 44736308, 31598141, 5930668, 19931342, 48198936, 17250276, 20998582, 42644861, 11387335, 90781134, 44736308, ss228696437, ss238080714, ss244196361, ss566664173, ss662593539, ss995388916, ss1082684560, ss1367316706, ss1429266988, ss1579765729, ss1640073594, ss1683067627, ss1809804600, ss1938956660, ss1969278828, ss2030250819, ss2158870981, ss2629621992, ss2704623886, ss2974831979, ss3019366779, ss3352853743, ss3685859893, ss3743965411, ss3759428752, ss3788836709, ss3793700257, ss3798586739, ss3836010133, ss3841633478, ss3890627881, ss3941021542, ss5232811827, ss5512390887, ss5664567283, ss5822124702, ss5959425455	NC_000022.10:41799766:G:C	NC_000022.11:41403762:G:C	(self)
106384258, 571112551, 40100976, 127831951, 385700337, 1092720734, ss2247646214, ss3028961611, ss3651186744, ss3708277467, ss3822588718, ss3847148689, ss3983722975, ss5110591390, ss5311237840, ss5503067249, ss5618858323, ss5793994847, ss5818744368, ss5853408353, ss5881975357	NC_000022.11:41403762:G:C	NC_000022.11:41403762:G:C	(self)
ss13361935, ss16919661, ss17715259, ss20139534, ss21851153	NT_011520.9:21108820:G:C	NC_000022.11:41403762:G:C	(self)
ss140712, ss265913, ss1249699, ss2050238, ss24083046, ss41505439, ss80750532, ss96102136, ss106228476, ss133856167, ss138359788	NT_011520.12:21190335:G:C	NC_000022.11:41403762:G:C	(self)
48198936, ss3941021542	NC_000022.10:41799766:G:T	NC_000022.11:41403762:G:T	(self)
1092720734, ss2247646214	NC_000022.11:41403762:G:T	NC_000022.11:41403762:G: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 rs132906

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs132906