Name: rs132068
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.

rs132068

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr22:45055979 (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=0.367657 (97315/264690, TOPMED)
G=0.398728 (55692/139674, GnomAD)
G=0.10323 (2917/28258, 14KJPN) (+ 19 more)
G=0.41537 (11112/26752, ALFA)
G=0.10143 (1700/16760, 8.3KJPN)
G=0.2439 (1562/6404, 1000G_30x)
G=0.2442 (1223/5008, 1000G)
A=0.4391 (1967/4480, Estonian)
G=0.4917 (1895/3854, ALSPAC)
A=0.4833 (1792/3708, TWINSUK)
G=0.0870 (255/2930, KOREAN)
G=0.2378 (450/1892, HapMap)
G=0.0721 (132/1832, Korea1K)
G=0.3938 (445/1130, Daghestan)
G=0.495 (494/998, GoNL)
G=0.278 (174/626, Chileans)
G=0.468 (281/600, NorthernSweden)
A=0.421 (96/228, SGDP_PRJ)
G=0.269 (58/216, Qatari)
G=0.069 (15/216, Vietnamese)
G=0.47 (19/40, GENOME_DK)
A=0.25 (10/40, 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	26752	A=0.58463	G=0.41537
European	Sub	15750	A=0.48603	G=0.51397
African	Sub	6254	A=0.7549	G=0.2451
African Others	Sub	210	A=0.752	G=0.248
African American	Sub	6044	A=0.7550	G=0.2450
Asian	Sub	162	A=0.920	G=0.080
East Asian	Sub	104	A=0.952	G=0.048
Other Asian	Sub	58	A=0.86	G=0.14
Latin American 1	Sub	292	A=0.637	G=0.363
Latin American 2	Sub	2770	A=0.6975	G=0.3025
South Asian	Sub	112	A=0.714	G=0.286
Other	Sub	1412	A=0.6494	G=0.3506

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=0.632343	G=0.367657
gnomAD - Genomes	Global	Study-wide	139674	A=0.601272	G=0.398728
gnomAD - Genomes	European	Sub	75722	A=0.49200	G=0.50800
gnomAD - Genomes	African	Sub	41788	A=0.75151	G=0.24849
gnomAD - Genomes	American	Sub	13582	A=0.66750	G=0.33250
gnomAD - Genomes	Ashkenazi Jewish	Sub	3316	A=0.6040	G=0.3960
gnomAD - Genomes	East Asian	Sub	3124	A=0.9267	G=0.0733
gnomAD - Genomes	Other	Sub	2142	A=0.6345	G=0.3655
14KJPN	JAPANESE	Study-wide	28258	A=0.89677	G=0.10323
Allele Frequency Aggregator	Total	Global	26752	A=0.58463	G=0.41537
Allele Frequency Aggregator	European	Sub	15750	A=0.48603	G=0.51397
Allele Frequency Aggregator	African	Sub	6254	A=0.7549	G=0.2451
Allele Frequency Aggregator	Latin American 2	Sub	2770	A=0.6975	G=0.3025
Allele Frequency Aggregator	Other	Sub	1412	A=0.6494	G=0.3506
Allele Frequency Aggregator	Latin American 1	Sub	292	A=0.637	G=0.363
Allele Frequency Aggregator	Asian	Sub	162	A=0.920	G=0.080
Allele Frequency Aggregator	South Asian	Sub	112	A=0.714	G=0.286
8.3KJPN	JAPANESE	Study-wide	16760	A=0.89857	G=0.10143
1000Genomes_30x	Global	Study-wide	6404	A=0.7561	G=0.2439
1000Genomes_30x	African	Sub	1786	A=0.7828	G=0.2172
1000Genomes_30x	Europe	Sub	1266	A=0.5419	G=0.4581
1000Genomes_30x	South Asian	Sub	1202	A=0.8045	G=0.1955
1000Genomes_30x	East Asian	Sub	1170	A=0.9214	G=0.0786
1000Genomes_30x	American	Sub	980	A=0.728	G=0.272
1000Genomes	Global	Study-wide	5008	A=0.7558	G=0.2442
1000Genomes	African	Sub	1322	A=0.7738	G=0.2262
1000Genomes	East Asian	Sub	1008	A=0.9216	G=0.0784
1000Genomes	Europe	Sub	1006	A=0.5388	G=0.4612
1000Genomes	South Asian	Sub	978	A=0.805	G=0.195
1000Genomes	American	Sub	694	A=0.726	G=0.274
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.4391	G=0.5609
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.5083	G=0.4917
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.4833	G=0.5167
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.9130	G=0.0870
HapMap	Global	Study-wide	1892	A=0.7622	G=0.2378
HapMap	American	Sub	770	A=0.747	G=0.253
HapMap	African	Sub	692	A=0.772	G=0.228
HapMap	Asian	Sub	254	A=0.906	G=0.094
HapMap	Europe	Sub	176	A=0.585	G=0.415
Korean Genome Project	KOREAN	Study-wide	1832	A=0.9279	G=0.0721
Genome-wide autozygosity in Daghestan	Global	Study-wide	1130	A=0.6062	G=0.3938
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	A=0.551	G=0.449
Genome-wide autozygosity in Daghestan	Near_East	Sub	142	A=0.655	G=0.345
Genome-wide autozygosity in Daghestan	Central Asia	Sub	118	A=0.754	G=0.246
Genome-wide autozygosity in Daghestan	Europe	Sub	108	A=0.491	G=0.509
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	A=0.80	G=0.20
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	A=0.72	G=0.28
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.505	G=0.495
Chileans	Chilean	Study-wide	626	A=0.722	G=0.278
Northern Sweden	ACPOP	Study-wide	600	A=0.532	G=0.468
SGDP_PRJ	Global	Study-wide	228	A=0.421	G=0.579
Qatari	Global	Study-wide	216	A=0.731	G=0.269
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A=0.931	G=0.069
The Danish reference pan genome	Danish	Study-wide	40	A=0.53	G=0.47
Siberian	Global	Study-wide	40	A=0.25	G=0.75

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.45055979A>G
GRCh37.p13 chr 22	NC_000022.10:g.45451860A>G

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
GRCh38.p14 chr 22	NC_000022.11:g.45055979=	NC_000022.11:g.45055979A>G
GRCh37.p13 chr 22	NC_000022.10:g.45451860=	NC_000022.10:g.45451860A>G

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#.

77 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC	ss139811	Jun 24, 2000 (78)
2	YUSUKE	ss2987431	Jun 15, 2001 (96)
3	HGBASE	ss3188265	Aug 15, 2001 (98)
4	BCM_SSAHASNP	ss11003316	Jul 11, 2003 (116)
5	CSHL-HAPMAP	ss16921964	Feb 27, 2004 (120)
6	SSAHASNP	ss21837484	Apr 05, 2004 (121)
7	PERLEGEN	ss24569328	Sep 20, 2004 (123)
8	ABI	ss44328491	Mar 14, 2006 (126)
9	AFFY	ss76658449	Dec 07, 2007 (129)
10	BCMHGSC_JDW	ss91939932	Mar 24, 2008 (129)
11	KRIBB_YJKIM	ss104809101	Feb 05, 2009 (130)
12	1000GENOMES	ss112693793	Jan 25, 2009 (130)
13	ILLUMINA-UK	ss117427003	Feb 14, 2009 (130)
14	ENSEMBL	ss138364794	Dec 01, 2009 (131)
15	ENSEMBL	ss143140808	Dec 01, 2009 (131)
16	COMPLETE_GENOMICS	ss172041294	Jul 04, 2010 (132)
17	BUSHMAN	ss204108109	Jul 04, 2010 (132)
18	BCM-HGSC-SUB	ss208817633	Jul 04, 2010 (132)
19	1000GENOMES	ss228712633	Jul 14, 2010 (132)
20	1000GENOMES	ss238092254	Jul 15, 2010 (132)
21	1000GENOMES	ss244205365	Jul 15, 2010 (132)
22	BL	ss255953486	May 09, 2011 (134)
23	GMI	ss287579703	Apr 25, 2013 (138)
24	PJP	ss292773499	May 09, 2011 (134)
25	GMI	ss475861464	May 04, 2012 (137)
26	TISHKOFF	ss566684984	Apr 25, 2013 (138)
27	SSMP	ss662614196	Apr 25, 2013 (138)
28	EVA-GONL	ss995420599	Aug 21, 2014 (142)
29	JMKIDD_LAB	ss1082706521	Aug 21, 2014 (142)
30	1000GENOMES	ss1367434667	Aug 21, 2014 (142)
31	HAMMER_LAB	ss1397786500	Sep 08, 2015 (146)
32	DDI	ss1429276394	Apr 01, 2015 (144)
33	EVA_GENOME_DK	ss1579777649	Apr 01, 2015 (144)
34	EVA_UK10K_ALSPAC	ss1640134950	Apr 01, 2015 (144)
35	EVA_UK10K_TWINSUK	ss1683128983	Apr 01, 2015 (144)
36	EVA_DECODE	ss1699491808	Apr 01, 2015 (144)
37	EVA_SVP	ss1713746088	Apr 01, 2015 (144)
38	HAMMER_LAB	ss1809818933	Sep 08, 2015 (146)
39	WEILL_CORNELL_DGM	ss1938990432	Feb 12, 2016 (147)
40	GENOMED	ss1969285121	Jul 19, 2016 (147)
41	JJLAB	ss2030267846	Sep 14, 2016 (149)
42	USC_VALOUEV	ss2158889985	Dec 20, 2016 (150)
43	HUMAN_LONGEVITY	ss2247879428	Dec 20, 2016 (150)
44	SYSTEMSBIOZJU	ss2629630609	Nov 08, 2017 (151)
45	GRF	ss2704643246	Nov 08, 2017 (151)
46	GNOMAD	ss2975170817	Nov 08, 2017 (151)
47	SWEGEN	ss3019417377	Nov 08, 2017 (151)
48	BIOINF_KMB_FNS_UNIBA	ss3028970332	Nov 08, 2017 (151)
49	CSHL	ss3352868763	Nov 08, 2017 (151)
50	URBANLAB	ss3651193366	Oct 12, 2018 (152)
51	EGCUT_WGS	ss3685906707	Jul 13, 2019 (153)
52	EVA_DECODE	ss3708338420	Jul 13, 2019 (153)
53	ACPOP	ss3743992380	Jul 13, 2019 (153)
54	EVA	ss3759466155	Jul 13, 2019 (153)
55	PACBIO	ss3788845138	Jul 13, 2019 (153)
56	PACBIO	ss3793707585	Jul 13, 2019 (153)
57	PACBIO	ss3798594108	Jul 13, 2019 (153)
58	KHV_HUMAN_GENOMES	ss3822624581	Jul 13, 2019 (153)
59	EVA	ss3836026161	Apr 27, 2020 (154)
60	EVA	ss3841641431	Apr 27, 2020 (154)
61	EVA	ss3847156786	Apr 27, 2020 (154)
62	SGDP_PRJ	ss3890694424	Apr 27, 2020 (154)
63	KRGDB	ss3941098252	Apr 27, 2020 (154)
64	KOGIC	ss3983787409	Apr 27, 2020 (154)
65	TOPMED	ss5111603829	Apr 27, 2021 (155)
66	TOMMO_GENOMICS	ss5232955715	Apr 27, 2021 (155)
67	1000G_HIGH_COVERAGE	ss5311344651	Oct 16, 2022 (156)
68	EVA	ss5441748230	Oct 16, 2022 (156)
69	HUGCELL_USP	ss5503162641	Oct 16, 2022 (156)
70	1000G_HIGH_COVERAGE	ss5619012238	Oct 16, 2022 (156)
71	SANFORD_IMAGENETICS	ss5664627370	Oct 16, 2022 (156)
72	TOMMO_GENOMICS	ss5794185806	Oct 16, 2022 (156)
73	YY_MCH	ss5818770433	Oct 16, 2022 (156)
74	EVA	ss5822167132	Oct 16, 2022 (156)
75	EVA	ss5853421567	Oct 16, 2022 (156)
76	EVA	ss5882092810	Oct 16, 2022 (156)
77	EVA	ss5959485612	Oct 16, 2022 (156)
78	1000Genomes	NC_000022.10 - 45451860	Oct 12, 2018 (152)
79	1000Genomes_30x	NC_000022.11 - 45055979	Oct 16, 2022 (156)
80	The Avon Longitudinal Study of Parents and Children	NC_000022.10 - 45451860	Oct 12, 2018 (152)
81	Chileans	NC_000022.10 - 45451860	Apr 27, 2020 (154)
82	Genome-wide autozygosity in Daghestan	NC_000022.9 - 43830524	Apr 27, 2020 (154)
83	Genetic variation in the Estonian population	NC_000022.10 - 45451860	Oct 12, 2018 (152)
84	The Danish reference pan genome	NC_000022.10 - 45451860	Apr 27, 2020 (154)
85	gnomAD - Genomes	NC_000022.11 - 45055979	Apr 27, 2021 (155)
86	Genome of the Netherlands Release 5	NC_000022.10 - 45451860	Apr 27, 2020 (154)
87	HapMap	NC_000022.11 - 45055979	Apr 27, 2020 (154)
88	KOREAN population from KRGDB	NC_000022.10 - 45451860	Apr 27, 2020 (154)
89	Korean Genome Project	NC_000022.11 - 45055979	Apr 27, 2020 (154)
90	Northern Sweden	NC_000022.10 - 45451860	Jul 13, 2019 (153)
91	Qatari	NC_000022.10 - 45451860	Apr 27, 2020 (154)
92	SGDP_PRJ	NC_000022.10 - 45451860	Apr 27, 2020 (154)
93	Siberian	NC_000022.10 - 45451860	Apr 27, 2020 (154)
94	8.3KJPN	NC_000022.10 - 45451860	Apr 27, 2021 (155)
95	14KJPN	NC_000022.11 - 45055979	Oct 16, 2022 (156)
96	TopMed	NC_000022.11 - 45055979	Apr 27, 2021 (155)
97	UK 10K study - Twins	NC_000022.10 - 45451860	Oct 12, 2018 (152)
98	A Vietnamese Genetic Variation Database	NC_000022.10 - 45451860	Jul 13, 2019 (153)
99	ALFA	NC_000022.11 - 45055979	Apr 27, 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)
rs17628220	Oct 07, 2004 (123)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
300450, ss76658449, ss91939932, ss112693793, ss117427003, ss172041294, ss204108109, ss208817633, ss255953486, ss287579703, ss292773499, ss475861464, ss1397786500, ss1699491808, ss1713746088	NC_000022.9:43830523:A:G	NC_000022.11:45055978:A:G	(self)
80996618, 44804062, 272621, 31644955, 5942588, 19961192, 48275646, 17277245, 21032354, 42711404, 11406339, 90925022, 44804062, 9880205, ss228712633, ss238092254, ss244205365, ss566684984, ss662614196, ss995420599, ss1082706521, ss1367434667, ss1429276394, ss1579777649, ss1640134950, ss1683128983, ss1809818933, ss1938990432, ss1969285121, ss2030267846, ss2158889985, ss2629630609, ss2704643246, ss2975170817, ss3019417377, ss3352868763, ss3685906707, ss3743992380, ss3759466155, ss3788845138, ss3793707585, ss3798594108, ss3836026161, ss3841641431, ss3890694424, ss3941098252, ss5232955715, ss5441748230, ss5664627370, ss5822167132, ss5959485612	NC_000022.10:45451859:A:G	NC_000022.11:45055978:A:G	(self)
106538173, 571962495, 2269071, 40165410, 128022910, 386712776, 3190952890, ss2247879428, ss3028970332, ss3651193366, ss3708338420, ss3822624581, ss3847156786, ss3983787409, ss5111603829, ss5311344651, ss5503162641, ss5619012238, ss5794185806, ss5818770433, ss5853421567, ss5882092810	NC_000022.11:45055978:A:G	NC_000022.11:45055978:A:G	(self)
ss139811, ss2987431, ss3188265, ss24569328, ss44328491, ss104809101, ss138364794, ss143140808	NT_011520.12:24842428:A:G	NC_000022.11:45055978:A:G	(self)
ss11003316, ss16921964, ss21837484	NT_011522.4:718070:A:G	NC_000022.11:45055978:A:G	(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 rs132068

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

rs132068