Name: rs4938013
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.

rs4938013

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:113393748 (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>C / A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.317031 (83915/264690, TOPMED)
A=0.326414 (82951/254128, ALFA)
A=0.307745 (43083/139996, GnomAD) (+ 22 more)
A=0.32566 (25506/78322, PAGE_STUDY)
A=0.39447 (11147/28258, 14KJPN)
A=0.39521 (6623/16758, 8.3KJPN)
A=0.28420 (3648/12836, GO-ESP)
A=0.3337 (2137/6404, 1000G_30x)
A=0.3395 (1700/5008, 1000G)
A=0.3254 (1458/4480, Estonian)
A=0.3145 (1212/3854, ALSPAC)
A=0.3336 (1237/3708, TWINSUK)
C=0.4467 (1466/3282, PRJNA289433)
A=0.4485 (1314/2930, KOREAN)
A=0.3063 (579/1890, HapMap)
A=0.322 (321/998, GoNL)
A=0.453 (358/790, PRJEB37584)
A=0.298 (179/600, NorthernSweden)
A=0.493 (288/584, Vietnamese)
A=0.288 (154/534, MGP)
A=0.249 (117/470, SGDP_PRJ)
A=0.316 (96/304, FINRISK)
A=0.412 (89/216, Qatari)
A=0.22 (11/50, Siberian)
A=0.38 (15/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ANKK1 : Missense Variant
Publications: 6 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	259164	A=0.326392	C=0.673608
European	Sub	226468	A=0.323348	C=0.676652
African	Sub	9282	A=0.2275	C=0.7725
African Others	Sub	358	A=0.229	C=0.771
African American	Sub	8924	A=0.2275	C=0.7725
Asian	Sub	3920	A=0.4462	C=0.5538
East Asian	Sub	3158	A=0.4474	C=0.5526
Other Asian	Sub	762	A=0.441	C=0.559
Latin American 1	Sub	1040	A=0.3317	C=0.6683
Latin American 2	Sub	6606	A=0.4681	C=0.5319
South Asian	Sub	366	A=0.383	C=0.617
Other	Sub	11482	A=0.34167	C=0.65833

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=0.317031	C=0.682969
Allele Frequency Aggregator	Total	Global	254128	A=0.326414	C=0.673586
Allele Frequency Aggregator	European	Sub	223374	A=0.322983	C=0.677017
Allele Frequency Aggregator	Other	Sub	10682	A=0.34057	C=0.65943
Allele Frequency Aggregator	African	Sub	8140	A=0.2262	C=0.7738
Allele Frequency Aggregator	Latin American 2	Sub	6606	A=0.4681	C=0.5319
Allele Frequency Aggregator	Asian	Sub	3920	A=0.4462	C=0.5538
Allele Frequency Aggregator	Latin American 1	Sub	1040	A=0.3317	C=0.6683
Allele Frequency Aggregator	South Asian	Sub	366	A=0.383	C=0.617
gnomAD - Genomes	Global	Study-wide	139996	A=0.307745	C=0.692255
gnomAD - Genomes	European	Sub	75828	A=0.32845	C=0.67155
gnomAD - Genomes	African	Sub	41954	A=0.22353	C=0.77647
gnomAD - Genomes	American	Sub	13622	A=0.41756	C=0.58244
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.3258	C=0.6742
gnomAD - Genomes	East Asian	Sub	3122	A=0.4350	C=0.5650
gnomAD - Genomes	Other	Sub	2146	A=0.3122	C=0.6878
The PAGE Study	Global	Study-wide	78322	A=0.32566	C=0.67434
The PAGE Study	AfricanAmerican	Sub	32366	A=0.22585	C=0.77415
The PAGE Study	Mexican	Sub	10758	A=0.48894	C=0.51106
The PAGE Study	Asian	Sub	8274	A=0.3976	C=0.6024
The PAGE Study	PuertoRican	Sub	7874	A=0.3539	C=0.6461
The PAGE Study	NativeHawaiian	Sub	4520	A=0.4274	C=0.5726
The PAGE Study	Cuban	Sub	4214	A=0.3021	C=0.6979
The PAGE Study	Dominican	Sub	3812	A=0.2650	C=0.7350
The PAGE Study	CentralAmerican	Sub	2428	A=0.4049	C=0.5951
The PAGE Study	SouthAmerican	Sub	1972	A=0.4346	C=0.5654
The PAGE Study	NativeAmerican	Sub	1252	A=0.3802	C=0.6198
The PAGE Study	SouthAsian	Sub	852	A=0.385	C=0.615
14KJPN	JAPANESE	Study-wide	28258	A=0.39447	C=0.60553
8.3KJPN	JAPANESE	Study-wide	16758	A=0.39521	C=0.60479
GO Exome Sequencing Project	Global	Study-wide	12836	A=0.28420	C=0.71580
GO Exome Sequencing Project	European American	Sub	8538	A=0.3223	C=0.6777
GO Exome Sequencing Project	African American	Sub	4298	A=0.2085	C=0.7915
1000Genomes_30x	Global	Study-wide	6404	A=0.3337	C=0.6663
1000Genomes_30x	African	Sub	1786	A=0.1898	C=0.8102
1000Genomes_30x	Europe	Sub	1266	A=0.3167	C=0.6833
1000Genomes_30x	South Asian	Sub	1202	A=0.4176	C=0.5824
1000Genomes_30x	East Asian	Sub	1170	A=0.4393	C=0.5607
1000Genomes_30x	American	Sub	980	A=0.389	C=0.611
1000Genomes	Global	Study-wide	5008	A=0.3395	C=0.6605
1000Genomes	African	Sub	1322	A=0.1921	C=0.8079
1000Genomes	East Asian	Sub	1008	A=0.4454	C=0.5546
1000Genomes	Europe	Sub	1006	A=0.3201	C=0.6799
1000Genomes	South Asian	Sub	978	A=0.413	C=0.587
1000Genomes	American	Sub	694	A=0.390	C=0.610
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.3254	C=0.6746
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.3145	C=0.6855
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.3336	C=0.6664
MxGDAR/Encodat-PGx	Global	Study-wide	3282	A=0.5533	C=0.4467
MxGDAR/Encodat-PGx	MxGDAR	Sub	3282	A=0.5533	C=0.4467
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.4485	C=0.5515, G=0.0000
HapMap	Global	Study-wide	1890	A=0.3063	C=0.6937
HapMap	American	Sub	770	A=0.344	C=0.656
HapMap	African	Sub	690	A=0.228	C=0.772
HapMap	Asian	Sub	254	A=0.417	C=0.583
HapMap	Europe	Sub	176	A=0.290	C=0.710
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.322	C=0.678
CNV burdens in cranial meningiomas	Global	Study-wide	790	A=0.453	C=0.547
CNV burdens in cranial meningiomas	CRM	Sub	790	A=0.453	C=0.547
Northern Sweden	ACPOP	Study-wide	600	A=0.298	C=0.702
A Vietnamese Genetic Variation Database	Global	Study-wide	584	A=0.493	C=0.507
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.288	C=0.712
SGDP_PRJ	Global	Study-wide	470	A=0.249	C=0.751
FINRISK	Finnish from FINRISK project	Study-wide	304	A=0.316	C=0.684
Qatari	Global	Study-wide	216	A=0.412	C=0.588
Siberian	Global	Study-wide	50	A=0.22	C=0.78
The Danish reference pan genome	Danish	Study-wide	40	A=0.38	C=0.62

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.113393748A>C
GRCh38.p14 chr 11	NC_000011.10:g.113393748A>G
GRCh38.p14 chr 11	NC_000011.10:g.113393748A>T
GRCh37.p13 chr 11	NC_000011.9:g.113264470A>C
GRCh37.p13 chr 11	NC_000011.9:g.113264470A>G
GRCh37.p13 chr 11	NC_000011.9:g.113264470A>T
ANKK1 RefSeqGene	NG_012976.1:g.10958A>C
ANKK1 RefSeqGene	NG_012976.1:g.10958A>G
ANKK1 RefSeqGene	NG_012976.1:g.10958A>T

Gene: ANKK1, ankyrin repeat and kinase domain containing 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ANKK1 transcript	NM_178510.2:c.453A>C	I [ATA] > I [ATC]	Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1	NP_848605.1:p.Ile151=	I (Ile) > I (Ile)	Synonymous Variant
ANKK1 transcript	NM_178510.2:c.453A>G	I [ATA] > M [ATG]	Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1	NP_848605.1:p.Ile151Met	I (Ile) > M (Met)	Missense Variant
ANKK1 transcript	NM_178510.2:c.453A>T	I [ATA] > I [ATT]	Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1	NP_848605.1:p.Ile151=	I (Ile) > I (Ile)	Synonymous Variant
ANKK1 transcript variant X4	XM_011542738.2:c.231A>C	I [ATA] > I [ATC]	Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 isoform X4	XP_011541040.1:p.Ile77=	I (Ile) > I (Ile)	Synonymous Variant
ANKK1 transcript variant X4	XM_011542738.2:c.231A>G	I [ATA] > M [ATG]	Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 isoform X4	XP_011541040.1:p.Ile77Met	I (Ile) > M (Met)	Missense Variant
ANKK1 transcript variant X4	XM_011542738.2:c.231A>T	I [ATA] > I [ATT]	Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 isoform X4	XP_011541040.1:p.Ile77=	I (Ile) > I (Ile)	Synonymous Variant
ANKK1 transcript variant X1	XM_011542736.3:c.453A>C	I [ATA] > I [ATC]	Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 isoform X1	XP_011541038.1:p.Ile151=	I (Ile) > I (Ile)	Synonymous Variant
ANKK1 transcript variant X1	XM_011542736.3:c.453A>G	I [ATA] > M [ATG]	Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 isoform X1	XP_011541038.1:p.Ile151Met	I (Ile) > M (Met)	Missense Variant
ANKK1 transcript variant X1	XM_011542736.3:c.453A>T	I [ATA] > I [ATT]	Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 isoform X1	XP_011541038.1:p.Ile151=	I (Ile) > I (Ile)	Synonymous Variant
ANKK1 transcript variant X2	XM_017017475.2:c.453A>C	I [ATA] > I [ATC]	Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 isoform X2	XP_016872964.1:p.Ile151=	I (Ile) > I (Ile)	Synonymous Variant
ANKK1 transcript variant X2	XM_017017475.2:c.453A>G	I [ATA] > M [ATG]	Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 isoform X2	XP_016872964.1:p.Ile151Met	I (Ile) > M (Met)	Missense Variant
ANKK1 transcript variant X2	XM_017017475.2:c.453A>T	I [ATA] > I [ATT]	Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 isoform X2	XP_016872964.1:p.Ile151=	I (Ile) > I (Ile)	Synonymous Variant
ANKK1 transcript variant X3	XM_011542737.3:c.453A>C	I [ATA] > I [ATC]	Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 isoform X3	XP_011541039.1:p.Ile151=	I (Ile) > I (Ile)	Synonymous Variant
ANKK1 transcript variant X3	XM_011542737.3:c.453A>G	I [ATA] > M [ATG]	Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 isoform X3	XP_011541039.1:p.Ile151Met	I (Ile) > M (Met)	Missense Variant
ANKK1 transcript variant X3	XM_011542737.3:c.453A>T	I [ATA] > I [ATT]	Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 isoform X3	XP_011541039.1:p.Ile151=	I (Ile) > I (Ile)	Synonymous Variant

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=	C	G	T
GRCh38.p14 chr 11	NC_000011.10:g.113393748=	NC_000011.10:g.113393748A>C	NC_000011.10:g.113393748A>G	NC_000011.10:g.113393748A>T
GRCh37.p13 chr 11	NC_000011.9:g.113264470=	NC_000011.9:g.113264470A>C	NC_000011.9:g.113264470A>G	NC_000011.9:g.113264470A>T
ANKK1 RefSeqGene	NG_012976.1:g.10958=	NG_012976.1:g.10958A>C	NG_012976.1:g.10958A>G	NG_012976.1:g.10958A>T
ANKK1 transcript	NM_178510.2:c.453=	NM_178510.2:c.453A>C	NM_178510.2:c.453A>G	NM_178510.2:c.453A>T
ANKK1 transcript	NM_178510.1:c.453=	NM_178510.1:c.453A>C	NM_178510.1:c.453A>G	NM_178510.1:c.453A>T
ANKK1 transcript variant X1	XM_011542736.3:c.453=	XM_011542736.3:c.453A>C	XM_011542736.3:c.453A>G	XM_011542736.3:c.453A>T
ANKK1 transcript variant X1	XM_011542736.2:c.453=	XM_011542736.2:c.453A>C	XM_011542736.2:c.453A>G	XM_011542736.2:c.453A>T
ANKK1 transcript variant X1	XM_011542736.1:c.453=	XM_011542736.1:c.453A>C	XM_011542736.1:c.453A>G	XM_011542736.1:c.453A>T
ANKK1 transcript variant X3	XM_011542737.3:c.453=	XM_011542737.3:c.453A>C	XM_011542737.3:c.453A>G	XM_011542737.3:c.453A>T
ANKK1 transcript variant X3	XM_011542737.2:c.453=	XM_011542737.2:c.453A>C	XM_011542737.2:c.453A>G	XM_011542737.2:c.453A>T
ANKK1 transcript variant X2	XM_011542737.1:c.453=	XM_011542737.1:c.453A>C	XM_011542737.1:c.453A>G	XM_011542737.1:c.453A>T
ANKK1 transcript variant X4	XM_011542738.2:c.231=	XM_011542738.2:c.231A>C	XM_011542738.2:c.231A>G	XM_011542738.2:c.231A>T
ANKK1 transcript variant X3	XM_011542738.1:c.231=	XM_011542738.1:c.231A>C	XM_011542738.1:c.231A>G	XM_011542738.1:c.231A>T
ANKK1 transcript variant X2	XM_017017475.2:c.453=	XM_017017475.2:c.453A>C	XM_017017475.2:c.453A>G	XM_017017475.2:c.453A>T
ANKK1 transcript variant X2	XM_017017475.1:c.453=	XM_017017475.1:c.453A>C	XM_017017475.1:c.453A>G	XM_017017475.1:c.453A>T
ankyrin repeat and protein kinase domain-containing protein 1	NP_848605.1:p.Ile151=	NP_848605.1:p.Ile151=	NP_848605.1:p.Ile151Met	NP_848605.1:p.Ile151=
ankyrin repeat and protein kinase domain-containing protein 1 isoform X1	XP_011541038.1:p.Ile151=	XP_011541038.1:p.Ile151=	XP_011541038.1:p.Ile151Met	XP_011541038.1:p.Ile151=
ankyrin repeat and protein kinase domain-containing protein 1 isoform X3	XP_011541039.1:p.Ile151=	XP_011541039.1:p.Ile151=	XP_011541039.1:p.Ile151Met	XP_011541039.1:p.Ile151=
ankyrin repeat and protein kinase domain-containing protein 1 isoform X4	XP_011541040.1:p.Ile77=	XP_011541040.1:p.Ile77=	XP_011541040.1:p.Ile77Met	XP_011541040.1:p.Ile77=
ankyrin repeat and protein kinase domain-containing protein 1 isoform X2	XP_016872964.1:p.Ile151=	XP_016872964.1:p.Ile151=	XP_016872964.1:p.Ile151Met	XP_016872964.1:p.Ile151=

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#.

160 SubSNP, 29 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss6829724	Feb 20, 2003 (111)
2	CSHL-HAPMAP	ss17419660	Feb 27, 2004 (120)
3	SSAHASNP	ss20847500	Apr 05, 2004 (121)
4	PERLEGEN	ss24101797	Sep 20, 2004 (123)
5	RSG_JCVI	ss69359373	May 17, 2007 (127)
6	CANCER-GENOME	ss74802343	Dec 07, 2007 (129)
7	ILLUMINA	ss75166286	Dec 07, 2007 (129)
8	HGSV	ss77649051	Dec 07, 2007 (129)
9	HGSV	ss83938144	Dec 16, 2007 (130)
10	BCMHGSC_JDW	ss88801071	Mar 24, 2008 (129)
11	HUMANGENOME_JCVI	ss97418955	Feb 06, 2009 (130)
12	BGI	ss103002102	Dec 01, 2009 (131)
13	1000GENOMES	ss111100343	Jan 25, 2009 (130)
14	1000GENOMES	ss115197210	Jan 25, 2009 (130)
15	KRIBB_YJKIM	ss119494994	Dec 01, 2009 (131)
16	ENSEMBL	ss137852222	Dec 01, 2009 (131)
17	GMI	ss156810773	Dec 01, 2009 (131)
18	ILLUMINA	ss160730020	Dec 01, 2009 (131)
19	COMPLETE_GENOMICS	ss168755685	Jul 04, 2010 (132)
20	COMPLETE_GENOMICS	ss170912830	Jul 04, 2010 (132)
21	ILLUMINA	ss173882178	Jul 04, 2010 (132)
22	COMPLETE_GENOMICS	ss175282601	Jul 04, 2010 (132)
23	BUSHMAN	ss203227827	Jul 04, 2010 (132)
24	BCM-HGSC-SUB	ss207601441	Jul 04, 2010 (132)
25	1000GENOMES	ss225469522	Jul 14, 2010 (132)
26	1000GENOMES	ss235724717	Jul 15, 2010 (132)
27	1000GENOMES	ss242321810	Jul 15, 2010 (132)
28	BL	ss255384293	May 09, 2011 (134)
29	GMI	ss281176516	May 04, 2012 (137)
30	GMI	ss286460459	Apr 25, 2013 (138)
31	PJP	ss291142809	May 09, 2011 (134)
32	ILLUMINA	ss481107234	May 04, 2012 (137)
33	ILLUMINA	ss481129204	May 04, 2012 (137)
34	ILLUMINA	ss482119753	Sep 08, 2015 (146)
35	ILLUMINA	ss485348683	May 04, 2012 (137)
36	1000GENOMES	ss491029371	May 04, 2012 (137)
37	CLINSEQ_SNP	ss491654158	May 04, 2012 (137)
38	ILLUMINA	ss535901752	Sep 08, 2015 (146)
39	ILLUMINA	ss537295904	Sep 08, 2015 (146)
40	TISHKOFF	ss562835262	Apr 25, 2013 (138)
41	SSMP	ss658358312	Apr 25, 2013 (138)
42	NHLBI-ESP	ss713049405	Apr 25, 2013 (138)
43	ILLUMINA	ss778925559	Sep 08, 2015 (146)
44	ILLUMINA	ss783120076	Sep 08, 2015 (146)
45	ILLUMINA	ss784076858	Sep 08, 2015 (146)
46	ILLUMINA	ss832378843	Sep 08, 2015 (146)
47	ILLUMINA	ss834387034	Sep 08, 2015 (146)
48	EVA-GONL	ss988978199	Aug 21, 2014 (142)
49	JMKIDD_LAB	ss1067528184	Aug 21, 2014 (142)
50	JMKIDD_LAB	ss1078056430	Aug 21, 2014 (142)
51	1000GENOMES	ss1343024013	Aug 21, 2014 (142)
52	DDI	ss1426765504	Apr 01, 2015 (144)
53	EVA_GENOME_DK	ss1575961491	Apr 01, 2015 (144)
54	EVA_FINRISK	ss1584078056	Apr 01, 2015 (144)
55	EVA_DECODE	ss1598644186	Apr 01, 2015 (144)
56	EVA_UK10K_ALSPAC	ss1627494043	Apr 01, 2015 (144)
57	EVA_UK10K_TWINSUK	ss1670488076	Apr 01, 2015 (144)
58	EVA_EXAC	ss1690636458	Apr 01, 2015 (144)
59	EVA_EXAC	ss1690636459	Apr 01, 2015 (144)
60	EVA_MGP	ss1711309070	Apr 01, 2015 (144)
61	EVA_SVP	ss1713285845	Apr 01, 2015 (144)
62	ILLUMINA	ss1751995084	Sep 08, 2015 (146)
63	HAMMER_LAB	ss1807003602	Sep 08, 2015 (146)
64	WEILL_CORNELL_DGM	ss1932339347	Feb 12, 2016 (147)
65	ILLUMINA	ss1946323005	Feb 12, 2016 (147)
66	ILLUMINA	ss1959386497	Feb 12, 2016 (147)
67	GENOMED	ss1967462477	Jul 19, 2016 (147)
68	JJLAB	ss2026913563	Sep 14, 2016 (149)
69	USC_VALOUEV	ss2155226110	Dec 20, 2016 (150)
70	HUMAN_LONGEVITY	ss2185828207	Dec 20, 2016 (150)
71	SYSTEMSBIOZJU	ss2627931615	Nov 08, 2017 (151)
72	ILLUMINA	ss2632889033	Nov 08, 2017 (151)
73	GRF	ss2699536261	Nov 08, 2017 (151)
74	ILLUMINA	ss2710746393	Nov 08, 2017 (151)
75	GNOMAD	ss2739394217	Nov 08, 2017 (151)
76	GNOMAD	ss2748741387	Nov 08, 2017 (151)
77	GNOMAD	ss2904622816	Nov 08, 2017 (151)
78	AFFY	ss2985598962	Nov 08, 2017 (151)
79	SWEGEN	ss3008803423	Nov 08, 2017 (151)
80	ILLUMINA	ss3021377216	Nov 08, 2017 (151)
81	EVA_SAMSUNG_MC	ss3023067125	Nov 08, 2017 (151)
82	BIOINF_KMB_FNS_UNIBA	ss3027257449	Nov 08, 2017 (151)
83	CSHL	ss3349801534	Nov 08, 2017 (151)
84	ILLUMINA	ss3625609782	Oct 12, 2018 (152)
85	ILLUMINA	ss3626753038	Oct 12, 2018 (152)
86	ILLUMINA	ss3626753039	Oct 12, 2018 (152)
87	ILLUMINA	ss3630902906	Oct 12, 2018 (152)
88	ILLUMINA	ss3632999848	Oct 12, 2018 (152)
89	ILLUMINA	ss3633699821	Oct 12, 2018 (152)
90	ILLUMINA	ss3634475927	Oct 12, 2018 (152)
91	ILLUMINA	ss3635391096	Oct 12, 2018 (152)
92	ILLUMINA	ss3636160252	Oct 12, 2018 (152)
93	ILLUMINA	ss3637141999	Oct 12, 2018 (152)
94	ILLUMINA	ss3637931179	Oct 12, 2018 (152)
95	ILLUMINA	ss3640183263	Oct 12, 2018 (152)
96	ILLUMINA	ss3642927589	Oct 12, 2018 (152)
97	ILLUMINA	ss3644575867	Oct 12, 2018 (152)
98	OMUKHERJEE_ADBS	ss3646432869	Oct 12, 2018 (152)
99	URBANLAB	ss3649708295	Oct 12, 2018 (152)
100	ILLUMINA	ss3651744776	Oct 12, 2018 (152)
101	EGCUT_WGS	ss3676130973	Jul 13, 2019 (153)
102	EVA_DECODE	ss3692627122	Jul 13, 2019 (153)
103	ILLUMINA	ss3725277441	Jul 13, 2019 (153)
104	ACPOP	ss3738552414	Jul 13, 2019 (153)
105	ILLUMINA	ss3744090893	Jul 13, 2019 (153)
106	ILLUMINA	ss3744776703	Jul 13, 2019 (153)
107	EVA	ss3749829939	Jul 13, 2019 (153)
108	PAGE_CC	ss3771653368	Jul 13, 2019 (153)
109	ILLUMINA	ss3772276469	Jul 13, 2019 (153)
110	PACBIO	ss3787071661	Jul 13, 2019 (153)
111	PACBIO	ss3792195235	Jul 13, 2019 (153)
112	PACBIO	ss3797077756	Jul 13, 2019 (153)
113	KHV_HUMAN_GENOMES	ss3815160238	Jul 13, 2019 (153)
114	EVA	ss3824672134	Apr 26, 2020 (154)
115	EVA	ss3825527966	Apr 26, 2020 (154)
116	EVA	ss3825543334	Apr 26, 2020 (154)
117	EVA	ss3825809559	Apr 26, 2020 (154)
118	EVA	ss3832846077	Apr 26, 2020 (154)
119	EVA	ss3839985379	Apr 26, 2020 (154)
120	EVA	ss3845467092	Apr 26, 2020 (154)
121	SGDP_PRJ	ss3877167117	Apr 26, 2020 (154)
122	KRGDB	ss3925625180	Apr 26, 2020 (154)
123	FSA-LAB	ss3984013667	Apr 26, 2021 (155)
124	EVA	ss3984449387	Apr 26, 2021 (155)
125	EVA	ss3984657489	Apr 26, 2021 (155)
126	EVA	ss3986056772	Apr 26, 2021 (155)
127	EVA	ss3986545661	Apr 26, 2021 (155)
128	TOPMED	ss4900491365	Apr 26, 2021 (155)
129	EVA	ss5141964218	Apr 26, 2021 (155)
130	TOMMO_GENOMICS	ss5203954441	Apr 26, 2021 (155)
131	EVA	ss5236899619	Apr 26, 2021 (155)
132	EVA	ss5237216675	Apr 26, 2021 (155)
133	EVA	ss5237658551	Oct 16, 2022 (156)
134	1000G_HIGH_COVERAGE	ss5288952741	Oct 16, 2022 (156)
135	TRAN_CS_UWATERLOO	ss5314433289	Oct 16, 2022 (156)
136	EVA	ss5315577723	Oct 16, 2022 (156)
137	EVA	ss5402336231	Oct 16, 2022 (156)
138	HUGCELL_USP	ss5483936695	Oct 16, 2022 (156)
139	EVA	ss5510526848	Oct 16, 2022 (156)
140	1000G_HIGH_COVERAGE	ss5585463974	Oct 16, 2022 (156)
141	EVA	ss5623955268	Oct 16, 2022 (156)
142	EVA	ss5624025642	Oct 16, 2022 (156)
143	SANFORD_IMAGENETICS	ss5624285893	Oct 16, 2022 (156)
144	SANFORD_IMAGENETICS	ss5652101353	Oct 16, 2022 (156)
145	TOMMO_GENOMICS	ss5752420546	Oct 16, 2022 (156)
146	EVA	ss5799854718	Oct 16, 2022 (156)
147	EVA	ss5800064010	Oct 16, 2022 (156)
148	EVA	ss5800171901	Oct 16, 2022 (156)
149	YY_MCH	ss5812789061	Oct 16, 2022 (156)
150	EVA	ss5837249452	Oct 16, 2022 (156)
151	EVA	ss5847398031	Oct 16, 2022 (156)
152	EVA	ss5847648508	Oct 16, 2022 (156)
153	EVA	ss5848337359	Oct 16, 2022 (156)
154	EVA	ss5850157032	Oct 16, 2022 (156)
155	EVA	ss5921716338	Oct 16, 2022 (156)
156	EVA	ss5936550535	Oct 16, 2022 (156)
157	EVA	ss5943431795	Oct 16, 2022 (156)
158	EVA	ss5979372160	Oct 16, 2022 (156)
159	EVA	ss5980703498	Oct 16, 2022 (156)
160	EVA	ss5981271304	Oct 16, 2022 (156)
161	1000Genomes	NC_000011.9 - 113264470	Oct 12, 2018 (152)
162	1000Genomes_30x	NC_000011.10 - 113393748	Oct 16, 2022 (156)
163	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 113264470	Oct 12, 2018 (152)
164	Genetic variation in the Estonian population	NC_000011.9 - 113264470	Oct 12, 2018 (152)
165	ExAC Submission ignored due to conflicting rows: Row 912807 (NC_000011.9:113264469:A:A 42270/120006, NC_000011.9:113264469:A:C 77736/120006) Row 912808 (NC_000011.9:113264469:A:A 120005/120006, NC_000011.9:113264469:A:T 1/120006)	-	Oct 12, 2018 (152)
166	ExAC Submission ignored due to conflicting rows: Row 912807 (NC_000011.9:113264469:A:A 42270/120006, NC_000011.9:113264469:A:C 77736/120006) Row 912808 (NC_000011.9:113264469:A:A 120005/120006, NC_000011.9:113264469:A:T 1/120006)	-	Oct 12, 2018 (152)
167	FINRISK	NC_000011.9 - 113264470	Apr 26, 2020 (154)
168	The Danish reference pan genome	NC_000011.9 - 113264470	Apr 26, 2020 (154)
169	gnomAD - Genomes	NC_000011.10 - 113393748	Apr 26, 2021 (155)
170	gnomAD - Exomes Submission ignored due to conflicting rows: Row 8612977 (NC_000011.9:113264469:A:A 89001/245936, NC_000011.9:113264469:A:C 156935/245936) Row 8612978 (NC_000011.9:113264469:A:A 245935/245936, NC_000011.9:113264469:A:T 1/245936)	-	Jul 13, 2019 (153)
171	gnomAD - Exomes Submission ignored due to conflicting rows: Row 8612977 (NC_000011.9:113264469:A:A 89001/245936, NC_000011.9:113264469:A:C 156935/245936) Row 8612978 (NC_000011.9:113264469:A:A 245935/245936, NC_000011.9:113264469:A:T 1/245936)	-	Jul 13, 2019 (153)
172	GO Exome Sequencing Project	NC_000011.9 - 113264470	Oct 12, 2018 (152)
173	Genome of the Netherlands Release 5	NC_000011.9 - 113264470	Apr 26, 2020 (154)
174	HapMap	NC_000011.10 - 113393748	Apr 26, 2020 (154)
175	KOREAN population from KRGDB	NC_000011.9 - 113264470	Apr 26, 2020 (154)
176	Medical Genome Project healthy controls from Spanish population	NC_000011.9 - 113264470	Apr 26, 2020 (154)
177	Northern Sweden	NC_000011.9 - 113264470	Jul 13, 2019 (153)
178	The PAGE Study	NC_000011.10 - 113393748	Jul 13, 2019 (153)
179	CNV burdens in cranial meningiomas	NC_000011.9 - 113264470	Apr 26, 2021 (155)
180	MxGDAR/Encodat-PGx	NC_000011.9 - 113264470	Apr 26, 2021 (155)
181	Qatari	NC_000011.9 - 113264470	Apr 26, 2020 (154)
182	SGDP_PRJ	NC_000011.9 - 113264470	Apr 26, 2020 (154)
183	Siberian	NC_000011.9 - 113264470	Apr 26, 2020 (154)
184	8.3KJPN	NC_000011.9 - 113264470	Apr 26, 2021 (155)
185	14KJPN	NC_000011.10 - 113393748	Oct 16, 2022 (156)
186	TopMed	NC_000011.10 - 113393748	Apr 26, 2021 (155)
187	UK 10K study - Twins	NC_000011.9 - 113264470	Oct 12, 2018 (152)
188	A Vietnamese Genetic Variation Database	NC_000011.9 - 113264470	Jul 13, 2019 (153)
189	ALFA	NC_000011.10 - 113393748	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)
rs61344497	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss77649051, ss83938144, ss88801071, ss111100343, ss115197210, ss168755685, ss170912830, ss175282601, ss203227827, ss207601441, ss255384293, ss281176516, ss286460459, ss291142809, ss481107234, ss491654158, ss1598644186, ss1713285845, ss3642927589	NC_000011.8:112769679:A:C	NC_000011.10:113393747:A:C	(self)
55608438, 30866501, 21869221, 74517, 2741383, 1129669, 13774791, 32802574, 424830, 11837279, 206974, 2388, 14381277, 29184097, 7742464, 61923748, 30866501, 6850573, ss225469522, ss235724717, ss242321810, ss481129204, ss482119753, ss485348683, ss491029371, ss535901752, ss537295904, ss562835262, ss658358312, ss713049405, ss778925559, ss783120076, ss784076858, ss832378843, ss834387034, ss988978199, ss1067528184, ss1078056430, ss1343024013, ss1426765504, ss1575961491, ss1584078056, ss1627494043, ss1670488076, ss1690636458, ss1711309070, ss1751995084, ss1807003602, ss1932339347, ss1946323005, ss1959386497, ss1967462477, ss2026913563, ss2155226110, ss2627931615, ss2632889033, ss2699536261, ss2710746393, ss2739394217, ss2748741387, ss2904622816, ss2985598962, ss3008803423, ss3021377216, ss3023067125, ss3349801534, ss3625609782, ss3626753038, ss3626753039, ss3630902906, ss3632999848, ss3633699821, ss3634475927, ss3635391096, ss3636160252, ss3637141999, ss3637931179, ss3640183263, ss3644575867, ss3646432869, ss3651744776, ss3676130973, ss3738552414, ss3744090893, ss3744776703, ss3749829939, ss3772276469, ss3787071661, ss3792195235, ss3797077756, ss3824672134, ss3825527966, ss3825543334, ss3825809559, ss3832846077, ss3839985379, ss3877167117, ss3925625180, ss3984013667, ss3984449387, ss3984657489, ss3986056772, ss3986545661, ss5203954441, ss5315577723, ss5402336231, ss5510526848, ss5623955268, ss5624025642, ss5624285893, ss5652101353, ss5799854718, ss5800064010, ss5800171901, ss5837249452, ss5847398031, ss5847648508, ss5848337359, ss5936550535, ss5943431795, ss5979372160, ss5980703498, ss5981271304	NC_000011.9:113264469:A:C	NC_000011.10:113393747:A:C	(self)
72989909, 392388542, 702353, 874837, 86257650, 116037021, 8442798338, ss2185828207, ss3027257449, ss3649708295, ss3692627122, ss3725277441, ss3771653368, ss3815160238, ss3845467092, ss4900491365, ss5141964218, ss5236899619, ss5237216675, ss5237658551, ss5288952741, ss5314433289, ss5483936695, ss5585463974, ss5752420546, ss5812789061, ss5850157032, ss5921716338	NC_000011.10:113393747:A:C	NC_000011.10:113393747:A:C	(self)
ss17419660, ss20847500	NT_033899.6:16808253:A:C	NC_000011.10:113393747:A:C	(self)
ss6829724, ss24101797, ss69359373, ss74802343, ss75166286, ss97418955, ss103002102, ss119494994, ss137852222, ss156810773, ss160730020, ss173882178	NT_033899.8:16826885:A:C	NC_000011.10:113393747:A:C	(self)
32802574, ss3925625180	NC_000011.9:113264469:A:G	NC_000011.10:113393747:A:G	(self)
ss1690636459, ss2739394217	NC_000011.9:113264469:A:T	NC_000011.10:113393747:A:T	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

6 citations for rs4938013

PMID	Title	Author	Year	Journal
22492058	A common genetic network underlies substance use disorders and disruptive or externalizing disorders.	Arcos-Burgos M et al.	2012	Human genetics
22722500	Association study of 27 annotated genes for clozapine pharmacogenetics: validation of preexisting studies and identification of a new candidate gene, ABCB1, for treatment response.	Lee ST et al.	2012	Journal of clinical psychopharmacology
23691092	Associations of prenatal nicotine exposure and the dopamine related genes ANKK1 and DRD2 to verbal language.	Eicher JD et al.	2013	PloS one
25778907	The DYX2 locus and neurochemical signaling genes contribute to speech sound disorder and related neurocognitive domains.	Eicher JD et al.	2015	Genes, brain, and behavior
30093869	Biological Predictors of Clozapine Response: A Systematic Review.	Samanaite R et al.	2018	Frontiers in psychiatry
30121507	Complete sequence of the ANKK1 gene in Mexican-Mestizo individuals with obesity, with or without binge eating disorder.	Palacios A et al.	2018	European psychiatry

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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs4938013