Name: rs11214207
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.

rs11214207

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:112442807 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.455801 (120646/264690, TOPMED)
A=0.450725 (63042/139868, GnomAD)
A=0.48165 (33329/69198, ALFA) (+ 19 more)
A=0.14927 (4218/28258, 14KJPN)
A=0.14835 (2486/16758, 8.3KJPN)
A=0.3973 (2544/6404, 1000G_30x)
A=0.3898 (1952/5008, 1000G)
A=0.4346 (1947/4480, Estonian)
A=0.4933 (1901/3854, ALSPAC)
G=0.4862 (1803/3708, TWINSUK)
A=0.1833 (537/2930, KOREAN)
A=0.4223 (880/2084, HGDP_Stanford)
A=0.3692 (697/1888, HapMap)
A=0.1932 (354/1832, Korea1K)
G=0.498 (497/998, GoNL)
A=0.432 (259/600, NorthernSweden)
G=0.361 (114/316, SGDP_PRJ)
G=0.491 (106/216, Qatari)
A=0.112 (24/214, Vietnamese)
G=0.47 (19/40, GENOME_DK)
G=0.35 (9/26, Siberian)
A=0.0 (0/2, Ancient Sardinia)

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	69198	G=0.51835	A=0.48165
European	Sub	56608	G=0.50894	A=0.49106
African	Sub	4526	G=0.6542	A=0.3458
African Others	Sub	170	G=0.671	A=0.329
African American	Sub	4356	G=0.6536	A=0.3464
Asian	Sub	190	G=0.889	A=0.111
East Asian	Sub	148	G=0.865	A=0.135
Other Asian	Sub	42	G=0.98	A=0.02
Latin American 1	Sub	254	G=0.508	A=0.492
Latin American 2	Sub	1232	G=0.3839	A=0.6161
South Asian	Sub	4956	G=0.5190	A=0.4810
Other	Sub	1432	G=0.5272	A=0.4728

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	G=0.544199	A=0.455801
gnomAD - Genomes	Global	Study-wide	139868	G=0.549275	A=0.450725
gnomAD - Genomes	European	Sub	75752	G=0.50846	A=0.49154
gnomAD - Genomes	African	Sub	41920	G=0.65064	A=0.34936
gnomAD - Genomes	American	Sub	13612	G=0.41816	A=0.58184
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.4594	A=0.5406
gnomAD - Genomes	East Asian	Sub	3112	G=0.8605	A=0.1395
gnomAD - Genomes	Other	Sub	2150	G=0.5293	A=0.4707
Allele Frequency Aggregator	Total	Global	69198	G=0.51835	A=0.48165
Allele Frequency Aggregator	European	Sub	56608	G=0.50894	A=0.49106
Allele Frequency Aggregator	South Asian	Sub	4956	G=0.5190	A=0.4810
Allele Frequency Aggregator	African	Sub	4526	G=0.6542	A=0.3458
Allele Frequency Aggregator	Other	Sub	1432	G=0.5272	A=0.4728
Allele Frequency Aggregator	Latin American 2	Sub	1232	G=0.3839	A=0.6161
Allele Frequency Aggregator	Latin American 1	Sub	254	G=0.508	A=0.492
Allele Frequency Aggregator	Asian	Sub	190	G=0.889	A=0.111
14KJPN	JAPANESE	Study-wide	28258	G=0.85073	A=0.14927
8.3KJPN	JAPANESE	Study-wide	16758	G=0.85165	A=0.14835
1000Genomes_30x	Global	Study-wide	6404	G=0.6027	A=0.3973
1000Genomes_30x	African	Sub	1786	G=0.6456	A=0.3544
1000Genomes_30x	Europe	Sub	1266	G=0.4771	A=0.5229
1000Genomes_30x	South Asian	Sub	1202	G=0.5691	A=0.4309
1000Genomes_30x	East Asian	Sub	1170	G=0.8863	A=0.1137
1000Genomes_30x	American	Sub	980	G=0.390	A=0.610
1000Genomes	Global	Study-wide	5008	G=0.6102	A=0.3898
1000Genomes	African	Sub	1322	G=0.6513	A=0.3487
1000Genomes	East Asian	Sub	1008	G=0.8810	A=0.1190
1000Genomes	Europe	Sub	1006	G=0.4742	A=0.5258
1000Genomes	South Asian	Sub	978	G=0.566	A=0.434
1000Genomes	American	Sub	694	G=0.398	A=0.602
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.5654	A=0.4346
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.5067	A=0.4933
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.4862	A=0.5138
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.8167	A=0.1833
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	G=0.5777	A=0.4223
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	G=0.860	A=0.140
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.563	A=0.437
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.403	A=0.597
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.438	A=0.562
HGDP-CEPH-db Supplement 1	Africa	Sub	242	G=0.661	A=0.339
HGDP-CEPH-db Supplement 1	America	Sub	216	G=0.255	A=0.745
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=0.99	A=0.01
HapMap	Global	Study-wide	1888	G=0.6308	A=0.3692
HapMap	American	Sub	768	G=0.592	A=0.408
HapMap	African	Sub	690	G=0.641	A=0.359
HapMap	Asian	Sub	254	G=0.878	A=0.122
HapMap	Europe	Sub	176	G=0.403	A=0.597
Korean Genome Project	KOREAN	Study-wide	1832	G=0.8068	A=0.1932
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.498	A=0.502
Northern Sweden	ACPOP	Study-wide	600	G=0.568	A=0.432
SGDP_PRJ	Global	Study-wide	316	G=0.361	A=0.639
Qatari	Global	Study-wide	216	G=0.491	A=0.509
A Vietnamese Genetic Variation Database	Global	Study-wide	214	G=0.888	A=0.112
The Danish reference pan genome	Danish	Study-wide	40	G=0.47	A=0.53
Siberian	Global	Study-wide	26	G=0.35	A=0.65
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	2	G=1.0	A=0.0

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 11	NC_000011.10:g.112442807G>A
GRCh37.p13 chr 11	NC_000011.9:g.112313530G>A

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
GRCh38.p14 chr 11	NC_000011.10:g.112442807=	NC_000011.10:g.112442807G>A
GRCh37.p13 chr 11	NC_000011.9:g.112313530=	NC_000011.9:g.112313530G>A

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#.

94 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss15496846	Feb 27, 2004 (120)
2	SC_SNP	ss18911826	Feb 27, 2004 (120)
3	SSAHASNP	ss20767022	Apr 05, 2004 (121)
4	ABI	ss38669230	Mar 14, 2006 (126)
5	ILLUMINA	ss66927217	Nov 30, 2006 (127)
6	ILLUMINA	ss67080888	Nov 30, 2006 (127)
7	ILLUMINA	ss68104040	Dec 12, 2006 (127)
8	PERLEGEN	ss69328962	May 17, 2007 (127)
9	ILLUMINA	ss70525145	May 23, 2008 (130)
10	ILLUMINA	ss71054926	May 17, 2007 (127)
11	ILLUMINA	ss75469983	Dec 07, 2007 (129)
12	HGSV	ss78015491	Dec 07, 2007 (129)
13	KRIBB_YJKIM	ss85089116	Dec 14, 2007 (130)
14	BCMHGSC_JDW	ss88796563	Mar 24, 2008 (129)
15	HUMANGENOME_JCVI	ss97512031	Feb 04, 2009 (130)
16	1000GENOMES	ss111089717	Jan 25, 2009 (130)
17	1000GENOMES	ss115186714	Jan 25, 2009 (130)
18	ILLUMINA-UK	ss119959818	Dec 01, 2009 (131)
19	ENSEMBL	ss132833846	Dec 01, 2009 (131)
20	ENSEMBL	ss137854152	Dec 01, 2009 (131)
21	ILLUMINA	ss152966712	Dec 01, 2009 (131)
22	ILLUMINA	ss159171072	Dec 01, 2009 (131)
23	COMPLETE_GENOMICS	ss168752693	Jul 04, 2010 (132)
24	COMPLETE_GENOMICS	ss170899159	Jul 04, 2010 (132)
25	ILLUMINA	ss171174876	Jul 04, 2010 (132)
26	COMPLETE_GENOMICS	ss175280412	Jul 04, 2010 (132)
27	BUSHMAN	ss203218961	Jul 04, 2010 (132)
28	1000GENOMES	ss225465685	Jul 14, 2010 (132)
29	1000GENOMES	ss235722015	Jul 15, 2010 (132)
30	1000GENOMES	ss242319274	Jul 15, 2010 (132)
31	GMI	ss281173885	May 04, 2012 (137)
32	PJP	ss291141412	May 09, 2011 (134)
33	ILLUMINA	ss536687607	Sep 08, 2015 (146)
34	TISHKOFF	ss562830774	Apr 25, 2013 (138)
35	SSMP	ss658353701	Apr 25, 2013 (138)
36	ILLUMINA	ss832683611	Jul 13, 2019 (153)
37	EVA-GONL	ss988971095	Aug 21, 2014 (142)
38	JMKIDD_LAB	ss1078051171	Aug 21, 2014 (142)
39	1000GENOMES	ss1342996328	Aug 21, 2014 (142)
40	DDI	ss1426763498	Apr 01, 2015 (144)
41	EVA_GENOME_DK	ss1575957711	Apr 01, 2015 (144)
42	EVA_DECODE	ss1598636544	Apr 01, 2015 (144)
43	EVA_UK10K_ALSPAC	ss1627478580	Apr 01, 2015 (144)
44	EVA_UK10K_TWINSUK	ss1670472613	Apr 01, 2015 (144)
45	EVA_SVP	ss1713285238	Apr 01, 2015 (144)
46	HAMMER_LAB	ss1807000748	Sep 08, 2015 (146)
47	WEILL_CORNELL_DGM	ss1932332138	Feb 12, 2016 (147)
48	GENOMED	ss1967460589	Jul 19, 2016 (147)
49	JJLAB	ss2026910074	Sep 14, 2016 (149)
50	USC_VALOUEV	ss2155222653	Dec 20, 2016 (150)
51	HUMAN_LONGEVITY	ss2185771003	Dec 20, 2016 (150)
52	ILLUMINA	ss2632888174	Nov 08, 2017 (151)
53	GRF	ss2699532089	Nov 08, 2017 (151)
54	GNOMAD	ss2904548675	Nov 08, 2017 (151)
55	SWEGEN	ss3008792993	Nov 08, 2017 (151)
56	BIOINF_KMB_FNS_UNIBA	ss3027255584	Nov 08, 2017 (151)
57	CSHL	ss3349798553	Nov 08, 2017 (151)
58	ILLUMINA	ss3626751468	Oct 12, 2018 (152)
59	ILLUMINA	ss3637930817	Oct 12, 2018 (152)
60	ILLUMINA	ss3638979080	Oct 12, 2018 (152)
61	ILLUMINA	ss3639800563	Oct 12, 2018 (152)
62	ILLUMINA	ss3642927255	Oct 12, 2018 (152)
63	ILLUMINA	ss3643852465	Oct 12, 2018 (152)
64	URBANLAB	ss3649707149	Oct 12, 2018 (152)
65	EGCUT_WGS	ss3676119504	Jul 13, 2019 (153)
66	EVA_DECODE	ss3692614115	Jul 13, 2019 (153)
67	ACPOP	ss3738546919	Jul 13, 2019 (153)
68	EVA	ss3749820775	Jul 13, 2019 (153)
69	PACBIO	ss3787069911	Jul 13, 2019 (153)
70	PACBIO	ss3792193741	Jul 13, 2019 (153)
71	PACBIO	ss3797076263	Jul 13, 2019 (153)
72	KHV_HUMAN_GENOMES	ss3815151913	Jul 13, 2019 (153)
73	EVA	ss3832842943	Apr 26, 2020 (154)
74	EVA	ss3839983589	Apr 26, 2020 (154)
75	EVA	ss3845465282	Apr 26, 2020 (154)
76	HGDP	ss3847431575	Apr 26, 2020 (154)
77	SGDP_PRJ	ss3877153540	Apr 26, 2020 (154)
78	KRGDB	ss3925610578	Apr 26, 2020 (154)
79	KOGIC	ss3970762315	Apr 26, 2020 (154)
80	EVA	ss3985557342	Apr 26, 2021 (155)
81	EVA	ss4017559390	Apr 26, 2021 (155)
82	TOPMED	ss4900255098	Apr 26, 2021 (155)
83	TOMMO_GENOMICS	ss5203925801	Apr 26, 2021 (155)
84	1000G_HIGH_COVERAGE	ss5288929717	Oct 16, 2022 (156)
85	HUGCELL_USP	ss5483915270	Oct 16, 2022 (156)
86	EVA	ss5510524599	Oct 16, 2022 (156)
87	1000G_HIGH_COVERAGE	ss5585428615	Oct 16, 2022 (156)
88	SANFORD_IMAGENETICS	ss5652088522	Oct 16, 2022 (156)
89	TOMMO_GENOMICS	ss5752383910	Oct 16, 2022 (156)
90	YY_MCH	ss5812783346	Oct 16, 2022 (156)
91	EVA	ss5837239967	Oct 16, 2022 (156)
92	EVA	ss5850154167	Oct 16, 2022 (156)
93	EVA	ss5921688134	Oct 16, 2022 (156)
94	EVA	ss5943417277	Oct 16, 2022 (156)
95	1000Genomes	NC_000011.9 - 112313530	Oct 12, 2018 (152)
96	1000Genomes_30x	NC_000011.10 - 112442807	Oct 16, 2022 (156)
97	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 112313530	Oct 12, 2018 (152)
98	Genetic variation in the Estonian population	NC_000011.9 - 112313530	Oct 12, 2018 (152)
99	The Danish reference pan genome	NC_000011.9 - 112313530	Apr 26, 2020 (154)
100	gnomAD - Genomes	NC_000011.10 - 112442807	Apr 26, 2021 (155)
101	Genome of the Netherlands Release 5	NC_000011.9 - 112313530	Apr 26, 2020 (154)
102	HGDP-CEPH-db Supplement 1	NC_000011.8 - 111818740	Apr 26, 2020 (154)
103	HapMap	NC_000011.10 - 112442807	Apr 26, 2020 (154)
104	KOREAN population from KRGDB	NC_000011.9 - 112313530	Apr 26, 2020 (154)
105	Korean Genome Project	NC_000011.10 - 112442807	Apr 26, 2020 (154)
106	Northern Sweden	NC_000011.9 - 112313530	Jul 13, 2019 (153)
107	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000011.9 - 112313530	Apr 26, 2021 (155)
108	Qatari	NC_000011.9 - 112313530	Apr 26, 2020 (154)
109	SGDP_PRJ	NC_000011.9 - 112313530	Apr 26, 2020 (154)
110	Siberian	NC_000011.9 - 112313530	Apr 26, 2020 (154)
111	8.3KJPN	NC_000011.9 - 112313530	Apr 26, 2021 (155)
112	14KJPN	NC_000011.10 - 112442807	Oct 16, 2022 (156)
113	TopMed	NC_000011.10 - 112442807	Apr 26, 2021 (155)
114	UK 10K study - Twins	NC_000011.9 - 112313530	Oct 12, 2018 (152)
115	A Vietnamese Genetic Variation Database	NC_000011.9 - 112313530	Jul 13, 2019 (153)
116	ALFA	NC_000011.10 - 112442807	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)
rs57321399	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
109467, ss78015491, ss88796563, ss111089717, ss115186714, ss119959818, ss168752693, ss170899159, ss175280412, ss203218961, ss281173885, ss291141412, ss1598636544, ss1713285238, ss3638979080, ss3639800563, ss3642927255, ss3643852465, ss3847431575	NC_000011.8:111818739:G:A	NC_000011.10:112442806:G:A	(self)
55579875, 30849675, 21857752, 2738662, 13767771, 32787972, 11831784, 783269, 14374068, 29170520, 7739007, 61895108, 30849675, 6846571, ss225465685, ss235722015, ss242319274, ss536687607, ss562830774, ss658353701, ss832683611, ss988971095, ss1078051171, ss1342996328, ss1426763498, ss1575957711, ss1627478580, ss1670472613, ss1807000748, ss1932332138, ss1967460589, ss2026910074, ss2155222653, ss2632888174, ss2699532089, ss2904548675, ss3008792993, ss3349798553, ss3626751468, ss3637930817, ss3676119504, ss3738546919, ss3749820775, ss3787069911, ss3792193741, ss3797076263, ss3832842943, ss3839983589, ss3877153540, ss3925610578, ss3985557342, ss4017559390, ss5203925801, ss5510524599, ss5652088522, ss5837239967, ss5943417277	NC_000011.9:112313529:G:A	NC_000011.10:112442806:G:A	(self)
72954550, 392198548, 700587, 27140316, 86221014, 115800754, 11479252361, ss2185771003, ss3027255584, ss3649707149, ss3692614115, ss3815151913, ss3845465282, ss3970762315, ss4900255098, ss5288929717, ss5483915270, ss5585428615, ss5752383910, ss5812783346, ss5850154167, ss5921688134	NC_000011.10:112442806:G:A	NC_000011.10:112442806:G:A	(self)
ss15496846, ss18911826, ss20767022	NT_033899.6:15857313:G:A	NC_000011.10:112442806:G:A	(self)
ss38669230, ss66927217, ss67080888, ss68104040, ss69328962, ss70525145, ss71054926, ss75469983, ss85089116, ss97512031, ss132833846, ss137854152, ss152966712, ss159171072, ss171174876	NT_033899.8:15875945:G:A	NC_000011.10:112442806:G:A	(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 rs11214207

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

rs11214207