Name: rs11866537
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.

rs11866537

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:40538 (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: T>A / T>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.181998 (48173/264690, TOPMED)
C=0.175077 (24439/139590, GnomAD)
C=0.42505 (12011/28258, 14KJPN) (+ 13 more)
C=0.42584 (7137/16760, 8.3KJPN)
C=0.07432 (1134/15258, ALFA)
C=0.2475 (1585/6404, 1000G_30x)
C=0.2486 (1245/5008, 1000G)
C=0.1788 (689/3854, ALSPAC)
C=0.1702 (631/3708, TWINSUK)
C=0.4372 (1281/2930, KOREAN)
C=0.4148 (760/1832, Korea1K)
C=0.135 (81/600, NorthernSweden)
T=0.400 (92/230, SGDP_PRJ)
C=0.168 (36/214, Qatari)
C=0.21 (8/38, GENOME_DK)
T=0.31 (5/16, 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	15258	T=0.92568	A=0.00000, C=0.07432, G=0.00000
European	Sub	12054	T=0.91156	A=0.00000, C=0.08844, G=0.00000
African	Sub	2090	T=0.9904	A=0.0000, C=0.0096, G=0.0000
African Others	Sub	84	T=1.00	A=0.00, C=0.00, G=0.00
African American	Sub	2006	T=0.9900	A=0.0000, C=0.0100, G=0.0000
Asian	Sub	56	T=0.98	A=0.00, C=0.02, G=0.00
East Asian	Sub	36	T=1.00	A=0.00, C=0.00, G=0.00
Other Asian	Sub	20	T=0.95	A=0.00, C=0.05, G=0.00
Latin American 1	Sub	90	T=1.00	A=0.00, C=0.00, G=0.00
Latin American 2	Sub	400	T=1.000	A=0.000, C=0.000, G=0.000
South Asian	Sub	60	T=0.98	A=0.00, C=0.02, G=0.00
Other	Sub	508	T=0.909	A=0.000, C=0.091, G=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	T=0.818002	C=0.181998
gnomAD - Genomes	Global	Study-wide	139590	T=0.824923	C=0.175077
gnomAD - Genomes	European	Sub	75624	T=0.82791	C=0.17209
gnomAD - Genomes	African	Sub	41794	T=0.83699	C=0.16301
gnomAD - Genomes	American	Sub	13594	T=0.80962	C=0.19038
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.8642	C=0.1358
gnomAD - Genomes	East Asian	Sub	3116	T=0.6255	C=0.3745
gnomAD - Genomes	Other	Sub	2140	T=0.8103	C=0.1897
14KJPN	JAPANESE	Study-wide	28258	T=0.57495	C=0.42505
8.3KJPN	JAPANESE	Study-wide	16760	T=0.57416	C=0.42584
Allele Frequency Aggregator	Total	Global	15258	T=0.92568	A=0.00000, C=0.07432, G=0.00000
Allele Frequency Aggregator	European	Sub	12054	T=0.91156	A=0.00000, C=0.08844, G=0.00000
Allele Frequency Aggregator	African	Sub	2090	T=0.9904	A=0.0000, C=0.0096, G=0.0000
Allele Frequency Aggregator	Other	Sub	508	T=0.909	A=0.000, C=0.091, G=0.000
Allele Frequency Aggregator	Latin American 2	Sub	400	T=1.000	A=0.000, C=0.000, G=0.000
Allele Frequency Aggregator	Latin American 1	Sub	90	T=1.00	A=0.00, C=0.00, G=0.00
Allele Frequency Aggregator	South Asian	Sub	60	T=0.98	A=0.00, C=0.02, G=0.00
Allele Frequency Aggregator	Asian	Sub	56	T=0.98	A=0.00, C=0.02, G=0.00
1000Genomes_30x	Global	Study-wide	6404	T=0.7525	C=0.2475
1000Genomes_30x	African	Sub	1786	T=0.8320	C=0.1680
1000Genomes_30x	Europe	Sub	1266	T=0.8246	C=0.1754
1000Genomes_30x	South Asian	Sub	1202	T=0.6864	C=0.3136
1000Genomes_30x	East Asian	Sub	1170	T=0.6111	C=0.3889
1000Genomes_30x	American	Sub	980	T=0.764	C=0.236
1000Genomes	Global	Study-wide	5008	T=0.7514	C=0.2486
1000Genomes	African	Sub	1322	T=0.8290	C=0.1710
1000Genomes	East Asian	Sub	1008	T=0.6280	C=0.3720
1000Genomes	Europe	Sub	1006	T=0.8231	C=0.1769
1000Genomes	South Asian	Sub	978	T=0.689	C=0.311
1000Genomes	American	Sub	694	T=0.767	C=0.233
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.8212	C=0.1788
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.8298	C=0.1702
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.5628	C=0.4372
Korean Genome Project	KOREAN	Study-wide	1832	T=0.5852	C=0.4148
Northern Sweden	ACPOP	Study-wide	600	T=0.865	C=0.135
SGDP_PRJ	Global	Study-wide	230	T=0.400	C=0.600
Qatari	Global	Study-wide	214	T=0.832	C=0.168
The Danish reference pan genome	Danish	Study-wide	38	T=0.79	C=0.21
Siberian	Global	Study-wide	16	T=0.31	C=0.69

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 16	NC_000016.10:g.40538T>A
GRCh38.p14 chr 16	NC_000016.10:g.40538T>C
GRCh38.p14 chr 16	NC_000016.10:g.40538T>G
GRCh37.p13 chr 16	NC_000016.9:g.90538T>A
GRCh37.p13 chr 16	NC_000016.9:g.90538T>C
GRCh37.p13 chr 16	NC_000016.9:g.90538T>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	T=	A	C	G
GRCh38.p14 chr 16	NC_000016.10:g.40538=	NC_000016.10:g.40538T>A	NC_000016.10:g.40538T>C	NC_000016.10:g.40538T>G
GRCh37.p13 chr 16	NC_000016.9:g.90538=	NC_000016.9:g.90538T>A	NC_000016.9:g.90538T>C	NC_000016.9:g.90538T>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#.

58 SubSNP, 16 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	CSHL-HAPMAP	ss17573572	Feb 28, 2004 (120)
2	ABI	ss40655151	Mar 13, 2006 (126)
3	HGSV	ss77325845	Dec 07, 2007 (129)
4	HGSV	ss82621341	Dec 14, 2007 (130)
5	BCMHGSC_JDW	ss90283374	Mar 24, 2008 (129)
6	BGI	ss103270622	Dec 01, 2009 (131)
7	ILLUMINA-UK	ss118150371	Dec 01, 2009 (131)
8	ENSEMBL	ss136537189	Dec 01, 2009 (131)
9	ENSEMBL	ss161771197	Dec 01, 2009 (131)
10	BCM-HGSC-SUB	ss207674664	Jul 04, 2010 (132)
11	1000GENOMES	ss227085807	Jul 14, 2010 (132)
12	1000GENOMES	ss236913578	Jul 15, 2010 (132)
13	1000GENOMES	ss243275712	Jul 15, 2010 (132)
14	GMI	ss282399010	May 04, 2012 (137)
15	GMI	ss287016998	Apr 25, 2013 (138)
16	PJP	ss291831159	May 09, 2011 (134)
17	TISHKOFF	ss564710030	Apr 25, 2013 (138)
18	SSMP	ss660454708	Apr 25, 2013 (138)
19	EVA-GONL	ss992173261	Aug 21, 2014 (142)
20	JMKIDD_LAB	ss1080408290	Aug 21, 2014 (142)
21	1000GENOMES	ss1354950941	Aug 21, 2014 (142)
22	DDI	ss1427745420	Apr 01, 2015 (144)
23	EVA_GENOME_DK	ss1577790922	Apr 01, 2015 (144)
24	EVA_UK10K_ALSPAC	ss1633790790	Apr 01, 2015 (144)
25	EVA_UK10K_TWINSUK	ss1676784823	Apr 01, 2015 (144)
26	EVA_DECODE	ss1696205816	Apr 01, 2015 (144)
27	HAMMER_LAB	ss1808371045	Sep 08, 2015 (146)
28	WEILL_CORNELL_DGM	ss1935578306	Feb 12, 2016 (147)
29	GENOMED	ss1968196473	Jul 19, 2016 (147)
30	JJLAB	ss2028576443	Sep 14, 2016 (149)
31	USC_VALOUEV	ss2156983773	Nov 08, 2017 (151)
32	SYSTEMSBIOZJU	ss2628782716	Nov 08, 2017 (151)
33	GRF	ss2701477558	Nov 08, 2017 (151)
34	GNOMAD	ss2939123157	Nov 08, 2017 (151)
35	SWEGEN	ss3013892123	Nov 08, 2017 (151)
36	BIOINF_KMB_FNS_UNIBA	ss3028112977	Nov 08, 2017 (151)
37	CSHL	ss3351285355	Nov 08, 2017 (151)
38	EVA_DECODE	ss3698629143	Jul 13, 2019 (153)
39	ACPOP	ss3741245902	Jul 13, 2019 (153)
40	EVA	ss3753552287	Jul 13, 2019 (153)
41	KHV_HUMAN_GENOMES	ss3818854495	Jul 13, 2019 (153)
42	EVA	ss3834421837	Apr 27, 2020 (154)
43	SGDP_PRJ	ss3883708548	Apr 27, 2020 (154)
44	KRGDB	ss3932973751	Apr 27, 2020 (154)
45	KOGIC	ss3976907346	Apr 27, 2020 (154)
46	TOPMED	ss5004236944	Apr 26, 2021 (155)
47	TOMMO_GENOMICS	ss5217926745	Apr 26, 2021 (155)
48	1000G_HIGH_COVERAGE	ss5299753522	Oct 16, 2022 (156)
49	EVA	ss5421630642	Oct 16, 2022 (156)
50	HUGCELL_USP	ss5493330939	Oct 16, 2022 (156)
51	1000G_HIGH_COVERAGE	ss5601805112	Oct 16, 2022 (156)
52	SANFORD_IMAGENETICS	ss5658253164	Oct 16, 2022 (156)
53	TOMMO_GENOMICS	ss5772250506	Oct 16, 2022 (156)
54	YY_MCH	ss5815665337	Oct 16, 2022 (156)
55	EVA	ss5845956207	Oct 16, 2022 (156)
56	EVA	ss5851447653	Oct 16, 2022 (156)
57	EVA	ss5897860813	Oct 16, 2022 (156)
58	EVA	ss5949680428	Oct 16, 2022 (156)
59	1000Genomes	NC_000016.9 - 90538	Oct 12, 2018 (152)
60	1000Genomes_30x	NC_000016.10 - 40538	Oct 16, 2022 (156)
61	The Avon Longitudinal Study of Parents and Children	NC_000016.9 - 90538	Oct 12, 2018 (152)
62	The Danish reference pan genome	NC_000016.9 - 90538	Apr 27, 2020 (154)
63	gnomAD - Genomes	NC_000016.10 - 40538	Apr 26, 2021 (155)
64	KOREAN population from KRGDB	NC_000016.9 - 90538	Apr 27, 2020 (154)
65	Korean Genome Project	NC_000016.10 - 40538	Apr 27, 2020 (154)
66	Northern Sweden	NC_000016.9 - 90538	Jul 13, 2019 (153)
67	Qatari	NC_000016.9 - 90538	Apr 27, 2020 (154)
68	SGDP_PRJ	NC_000016.9 - 90538	Apr 27, 2020 (154)
69	Siberian	NC_000016.9 - 90538	Apr 27, 2020 (154)
70	8.3KJPN	NC_000016.9 - 90538	Apr 26, 2021 (155)
71	14KJPN	NC_000016.10 - 40538	Oct 16, 2022 (156)
72	TopMed	NC_000016.10 - 40538	Apr 26, 2021 (155)
73	UK 10K study - Twins	NC_000016.9 - 90538	Oct 12, 2018 (152)
74	ALFA	NC_000016.10 - 40538	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)
rs57192999	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
3680918761	NC_000016.10:40537:T:A	NC_000016.10:40537:T:A	(self)
ss77325845, ss82621341, ss90283374, ss118150371, ss207674664, ss282399010, ss287016998, ss291831159, ss1696205816	NC_000016.8:30537:T:C	NC_000016.10:40537:T:C	(self)
68075528, 37808113, 4008337, 40151145, 14530767, 17620228, 35725528, 9500127, 75896052, 37808113, ss227085807, ss236913578, ss243275712, ss564710030, ss660454708, ss992173261, ss1080408290, ss1354950941, ss1427745420, ss1577790922, ss1633790790, ss1676784823, ss1808371045, ss1935578306, ss1968196473, ss2028576443, ss2156983773, ss2628782716, ss2701477558, ss2939123157, ss3013892123, ss3351285355, ss3741245902, ss3753552287, ss3834421837, ss3883708548, ss3932973751, ss5217926745, ss5421630642, ss5658253164, ss5845956207, ss5949680428	NC_000016.9:90537:T:C	NC_000016.10:40537:T:C	(self)
89331047, 479813447, 33285347, 106087610, 219782605, 3680918761, ss3028112977, ss3698629143, ss3818854495, ss3976907346, ss5004236944, ss5299753522, ss5493330939, ss5601805112, ss5772250506, ss5815665337, ss5851447653, ss5897860813	NC_000016.10:40537:T:C	NC_000016.10:40537:T:C	(self)
ss40655151, ss103270622, ss136537189, ss161771197	NT_010393.16:30537:T:C	NC_000016.10:40537:T:C	(self)
ss17573572	NT_037887.3:30537:T:C	NC_000016.10:40537:T:C	(self)
3680918761	NC_000016.10:40537:T:G	NC_000016.10:40537:T: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 rs11866537

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

rs11866537