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dbSNP Short Genetic Variations

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 Aliases 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.

rs4938016

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr11:113399293 (GRCh38.p12) 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=0.39970 (50189/125568, TOPMED)
G=0.3752 (4783/12748, GO-ESP)
G=0.445 (2230/5008, 1000G) (+ 3 more)
G=0.310 (1388/4480, Estonian)
C=0.46 (279/605, Vietnamese)
G=0.34 (201/600, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ANKK1 : Missense Variant
Publications
2 citations
Genomic View
See rs on genome
Help

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.p12 chr 11 NC_000011.10:g.113399293G>A
GRCh38.p12 chr 11 NC_000011.10:g.113399293G>C
GRCh38.p12 chr 11 NC_000011.10:g.113399293G>T
GRCh37.p13 chr 11 NC_000011.9:g.113270015G>A
GRCh37.p13 chr 11 NC_000011.9:g.113270015G>C
GRCh37.p13 chr 11 NC_000011.9:g.113270015G>T
ANKK1 RefSeqGene NG_012976.1:g.16503G>A
ANKK1 RefSeqGene NG_012976.1:g.16503G>C
ANKK1 RefSeqGene NG_012976.1:g.16503G>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.1324G>A G [GGC] > S [AGC] Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 NP_848605.1:p.Gly442Ser G (Gly) > S (Ser) Missense Variant
ANKK1 transcript NM_178510.2:c.1324G>C G [GGC] > R [CGC] Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 NP_848605.1:p.Gly442Arg G (Gly) > R (Arg) Missense Variant
ANKK1 transcript NM_178510.2:c.1324G>T G [GGC] > C [TGC] Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 NP_848605.1:p.Gly442Cys G (Gly) > C (Cys) Missense Variant
ANKK1 transcript variant X1 XM_011542736.2:c.1357G>A G [GGC] > S [AGC] Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 isoform X1 XP_011541038.1:p.Gly453Ser G (Gly) > S (Ser) Missense Variant
ANKK1 transcript variant X1 XM_011542736.2:c.1357G>C G [GGC] > R [CGC] Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 isoform X1 XP_011541038.1:p.Gly453Arg G (Gly) > R (Arg) Missense Variant
ANKK1 transcript variant X1 XM_011542736.2:c.1357G>T G [GGC] > C [TGC] Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 isoform X1 XP_011541038.1:p.Gly453Cys G (Gly) > C (Cys) Missense Variant
ANKK1 transcript variant X2 XM_017017475.1:c.1354G>A G [GGC] > S [AGC] Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 isoform X2 XP_016872964.1:p.Gly452Ser G (Gly) > S (Ser) Missense Variant
ANKK1 transcript variant X2 XM_017017475.1:c.1354G>C G [GGC] > R [CGC] Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 isoform X2 XP_016872964.1:p.Gly452Arg G (Gly) > R (Arg) Missense Variant
ANKK1 transcript variant X2 XM_017017475.1:c.1354G>T G [GGC] > C [TGC] Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 isoform X2 XP_016872964.1:p.Gly452Cys G (Gly) > C (Cys) Missense Variant
ANKK1 transcript variant X3 XM_011542737.2:c.1327G>A G [GGC] > S [AGC] Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 isoform X3 XP_011541039.1:p.Gly443Ser G (Gly) > S (Ser) Missense Variant
ANKK1 transcript variant X3 XM_011542737.2:c.1327G>C G [GGC] > R [CGC] Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 isoform X3 XP_011541039.1:p.Gly443Arg G (Gly) > R (Arg) Missense Variant
ANKK1 transcript variant X3 XM_011542737.2:c.1327G>T G [GGC] > C [TGC] Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 isoform X3 XP_011541039.1:p.Gly443Cys G (Gly) > C (Cys) Missense Variant
ANKK1 transcript variant X4 XM_011542738.2:c.1135G>A G [GGC] > S [AGC] Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 isoform X4 XP_011541040.1:p.Gly379Ser G (Gly) > S (Ser) Missense Variant
ANKK1 transcript variant X4 XM_011542738.2:c.1135G>C G [GGC] > R [CGC] Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 isoform X4 XP_011541040.1:p.Gly379Arg G (Gly) > R (Arg) Missense Variant
ANKK1 transcript variant X4 XM_011542738.2:c.1135G>T G [GGC] > C [TGC] Coding Sequence Variant
ankyrin repeat and protein kinase domain-containing protein 1 isoform X4 XP_011541040.1:p.Gly379Cys G (Gly) > C (Cys) Missense Variant
Help

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
Help

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 125568 G=0.39970 C=0.60030
GO Exome Sequencing Project Global Study-wide 12748 G=0.3752 C=0.6248
GO Exome Sequencing Project European American Sub 8478 G=0.305 C=0.695
GO Exome Sequencing Project African American Sub 4270 G=0.515 C=0.485
1000Genomes Global Study-wide 5008 G=0.445 C=0.549, T=0.005
1000Genomes African Sub 1322 G=0.555 C=0.426, T=0.019
1000Genomes East Asian Sub 1008 G=0.534 C=0.466, T=0.000
1000Genomes Europe Sub 1006 G=0.316 C=0.683, T=0.001
1000Genomes South Asian Sub 978 G=0.38 C=0.62, T=0.00
1000Genomes American Sub 694 G=0.39 C=0.61, T=0.00
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.310 C=0.690
A Vietnamese Genetic Variation Database Global Study-wide 605 G=0.54 C=0.46
Northern Sweden ACPOP Study-wide 600 G=0.34 C=0.67
Help

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 Note
GRCh38.p12 chr 11 NC_000011.10:...

NC_000011.10:g.113399293=

NC_000011.10:...

NC_000011.10:g.113399293G>A

NC_000011.10:...

NC_000011.10:g.113399293G>C

NC_000011.10:...

NC_000011.10:g.113399293G>T

GRCh37.p13 chr 11 NC_000011.9:g...

NC_000011.9:g.113270015=

NC_000011.9:g...

NC_000011.9:g.113270015G>A

NC_000011.9:g...

NC_000011.9:g.113270015G>C

NC_000011.9:g...

NC_000011.9:g.113270015G>T

ANKK1 RefSeqGene NG_012976.1:g...

NG_012976.1:g.16503=

NG_012976.1:g...

NG_012976.1:g.16503G>A

NG_012976.1:g...

NG_012976.1:g.16503G>C

NG_012976.1:g...

NG_012976.1:g.16503G>T

ANKK1 transcript NM_178510.2:c...

NM_178510.2:c.1324=

NM_178510.2:c...

NM_178510.2:c.1324G>A

NM_178510.2:c...

NM_178510.2:c.1324G>C

NM_178510.2:c...

NM_178510.2:c.1324G>T

ANKK1 transcript NM_178510.1:c...

NM_178510.1:c.1324=

NM_178510.1:c...

NM_178510.1:c.1324G>A

NM_178510.1:c...

NM_178510.1:c.1324G>C

NM_178510.1:c...

NM_178510.1:c.1324G>T

ANKK1 transcript variant X4 XM_011542738....

XM_011542738.2:c.1135=

XM_011542738....

XM_011542738.2:c.1135G>A

XM_011542738....

XM_011542738.2:c.1135G>C

XM_011542738....

XM_011542738.2:c.1135G>T

ANKK1 transcript variant X1 XM_011542736....

XM_011542736.2:c.1357=

XM_011542736....

XM_011542736.2:c.1357G>A

XM_011542736....

XM_011542736.2:c.1357G>C

XM_011542736....

XM_011542736.2:c.1357G>T

ANKK1 transcript variant X3 XM_011542737....

XM_011542737.2:c.1327=

XM_011542737....

XM_011542737.2:c.1327G>A

XM_011542737....

XM_011542737.2:c.1327G>C

XM_011542737....

XM_011542737.2:c.1327G>T

ANKK1 transcript variant X2 XM_017017475....

XM_017017475.1:c.1354=

XM_017017475....

XM_017017475.1:c.1354G>A

XM_017017475....

XM_017017475.1:c.1354G>C

XM_017017475....

XM_017017475.1:c.1354G>T

ankyrin repeat and protein kinase domain-containing protein 1 NP_848605.1:p...

NP_848605.1:p.Gly442=

NP_848605.1:p...

NP_848605.1:p.Gly442Ser

NP_848605.1:p...

NP_848605.1:p.Gly442Arg

NP_848605.1:p...

NP_848605.1:p.Gly442Cys

ankyrin repeat and protein kinase domain-containing protein 1 isoform X4 XP_011541040....

XP_011541040.1:p.Gly379=

XP_011541040....

XP_011541040.1:p.Gly379Ser

XP_011541040....

XP_011541040.1:p.Gly379Arg

XP_011541040....

XP_011541040.1:p.Gly379Cys

ankyrin repeat and protein kinase domain-containing protein 1 isoform X1 XP_011541038....

XP_011541038.1:p.Gly453=

XP_011541038....

XP_011541038.1:p.Gly453Ser

XP_011541038....

XP_011541038.1:p.Gly453Arg

XP_011541038....

XP_011541038.1:p.Gly453Cys

ankyrin repeat and protein kinase domain-containing protein 1 isoform X3 XP_011541039....

XP_011541039.1:p.Gly443=

XP_011541039....

XP_011541039.1:p.Gly443Ser

XP_011541039....

XP_011541039.1:p.Gly443Arg

XP_011541039....

XP_011541039.1:p.Gly443Cys

ankyrin repeat and protein kinase domain-containing protein 1 isoform X2 XP_016872964....

XP_016872964.1:p.Gly452=

XP_016872964....

XP_016872964.1:p.Gly452Ser

XP_016872964....

XP_016872964.1:p.Gly452Arg

XP_016872964....

XP_016872964.1:p.Gly452Cys

Help

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#.

135 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss6829727 Feb 20, 2003 (111)
2 SC_SNP ss15908240 Feb 27, 2004 (120)
3 CSHL-HAPMAP ss19921708 Feb 27, 2004 (120)
4 SSAHASNP ss20845180 Apr 05, 2004 (121)
5 PERLEGEN ss24101853 Sep 20, 2004 (123)
6 ABI ss38678186 Mar 13, 2006 (126)
7 CANCER-GENOME ss48533364 Mar 13, 2006 (126)
8 ILLUMINA ss65728556 Oct 13, 2006 (127)
9 PERLEGEN ss69329201 May 16, 2007 (127)
10 RSG_JCVI ss69359381 May 16, 2007 (127)
11 ILLUMINA ss74896572 Dec 07, 2007 (129)
12 SI_EXO ss76892195 Dec 07, 2007 (129)
13 HGSV ss78684365 Dec 07, 2007 (129)
14 BCMHGSC_JDW ss88801103 Mar 24, 2008 (129)
15 HUMANGENOME_JCVI ss97418965 Feb 05, 2009 (130)
16 BGI ss103002111 Dec 01, 2009 (131)
17 1000GENOMES ss111100441 Jan 25, 2009 (130)
18 ENSEMBL ss132838609 Dec 01, 2009 (131)
19 ENSEMBL ss137852195 Dec 01, 2009 (131)
20 ILLUMINA ss160730021 Dec 01, 2009 (131)
21 COMPLETE_GENOMICS ss168755715 Jul 04, 2010 (132)
22 ILLUMINA ss173882185 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss175282620 Jul 04, 2010 (132)
24 BUSHMAN ss203227883 Jul 04, 2010 (132)
25 BCM-HGSC-SUB ss207927718 Jul 04, 2010 (132)
26 1000GENOMES ss225469553 Jul 14, 2010 (132)
27 1000GENOMES ss235724738 Jul 15, 2010 (132)
28 1000GENOMES ss242321830 Jul 15, 2010 (132)
29 BL ss255384313 May 09, 2011 (134)
30 GMI ss281176530 May 04, 2012 (137)
31 GMI ss286460470 Apr 25, 2013 (138)
32 PJP ss291142821 May 09, 2011 (134)
33 ILLUMINA ss481107238 May 04, 2012 (137)
34 ILLUMINA ss481129208 May 04, 2012 (137)
35 ILLUMINA ss482119756 Sep 08, 2015 (146)
36 ILLUMINA ss485348685 May 04, 2012 (137)
37 1000GENOMES ss491029398 May 04, 2012 (137)
38 EXOME_CHIP ss491459253 May 04, 2012 (137)
39 CLINSEQ_SNP ss491654170 May 04, 2012 (137)
40 ILLUMINA ss534429782 Sep 08, 2015 (146)
41 TISHKOFF ss562835297 Apr 25, 2013 (138)
42 SSMP ss658358343 Apr 25, 2013 (138)
43 NHLBI-ESP ss713049484 Apr 25, 2013 (138)
44 ILLUMINA ss778342418 Sep 08, 2015 (146)
45 ILLUMINA ss780904158 Sep 08, 2015 (146)
46 ILLUMINA ss783120077 Sep 08, 2015 (146)
47 ILLUMINA ss783591402 Sep 08, 2015 (146)
48 ILLUMINA ss784076859 Sep 08, 2015 (146)
49 ILLUMINA ss832378844 Sep 08, 2015 (146)
50 ILLUMINA ss833797033 Sep 08, 2015 (146)
51 JMKIDD_LAB ss974481180 Aug 21, 2014 (142)
52 EVA-GONL ss988978241 Aug 21, 2014 (142)
53 JMKIDD_LAB ss1067528196 Aug 21, 2014 (142)
54 JMKIDD_LAB ss1078056460 Aug 21, 2014 (142)
55 1000GENOMES ss1343024200 Aug 21, 2014 (142)
56 1000GENOMES ss1343024201 Aug 21, 2014 (142)
57 DDI ss1426765520 Apr 01, 2015 (144)
58 EVA_GENOME_DK ss1575961508 Apr 01, 2015 (144)
59 EVA_UK10K_ALSPAC ss1627494133 Apr 01, 2015 (144)
60 EVA_UK10K_ALSPAC ss1627494134 Apr 01, 2015 (144)
61 EVA_UK10K_TWINSUK ss1670488166 Apr 01, 2015 (144)
62 EVA_UK10K_TWINSUK ss1670488167 Apr 01, 2015 (144)
63 EVA_EXAC ss1690636778 Apr 01, 2015 (144)
64 EVA_EXAC ss1690636779 Apr 01, 2015 (144)
65 EVA_EXAC ss1690636780 Apr 01, 2015 (144)
66 EVA_MGP ss1711309095 Apr 01, 2015 (144)
67 EVA_MGP ss1711309096 Apr 01, 2015 (144)
68 ILLUMINA ss1751995110 Sep 08, 2015 (146)
69 ILLUMINA ss1751995111 Sep 08, 2015 (146)
70 HAMMER_LAB ss1807003614 Sep 08, 2015 (146)
71 ILLUMINA ss1917866574 Feb 12, 2016 (147)
72 WEILL_CORNELL_DGM ss1932339385 Feb 12, 2016 (147)
73 ILLUMINA ss1946323029 Feb 12, 2016 (147)
74 ILLUMINA ss1946323030 Feb 12, 2016 (147)
75 ILLUMINA ss1959386536 Feb 12, 2016 (147)
76 ILLUMINA ss1959386538 Feb 12, 2016 (147)
77 GENOMED ss1967462486 Jul 19, 2016 (147)
78 JJLAB ss2026913589 Sep 14, 2016 (149)
79 USC_VALOUEV ss2155226128 Dec 20, 2016 (150)
80 HUMAN_LONGEVITY ss2185828560 Dec 20, 2016 (150)
81 SYSTEMSBIOZJU ss2627931625 Nov 08, 2017 (151)
82 ILLUMINA ss2632889046 Nov 08, 2017 (151)
83 GRF ss2699536285 Nov 08, 2017 (151)
84 ILLUMINA ss2710746397 Nov 08, 2017 (151)
85 GNOMAD ss2739394720 Nov 08, 2017 (151)
86 GNOMAD ss2748741536 Nov 08, 2017 (151)
87 GNOMAD ss2904623239 Nov 08, 2017 (151)
88 AFFY ss2984957600 Nov 08, 2017 (151)
89 AFFY ss2985598997 Nov 08, 2017 (151)
90 SWEGEN ss3008803489 Nov 08, 2017 (151)
91 SWEGEN ss3008803490 Nov 08, 2017 (151)
92 ILLUMINA ss3021377252 Nov 08, 2017 (151)
93 EVA_SAMSUNG_MC ss3023067127 Nov 08, 2017 (151)
94 BIOINF_KMB_FNS_UNIBA ss3027257462 Nov 08, 2017 (151)
95 TOPMED ss3156775189 Nov 08, 2017 (151)
96 TOPMED ss3156775190 Nov 08, 2017 (151)
97 TOPMED ss3156775191 Nov 08, 2017 (151)
98 CSHL ss3349801551 Nov 08, 2017 (151)
99 ILLUMINA ss3625609785 Oct 12, 2018 (152)
100 ILLUMINA ss3626753083 Oct 12, 2018 (152)
101 ILLUMINA ss3626753084 Oct 12, 2018 (152)
102 ILLUMINA ss3630902917 Oct 12, 2018 (152)
103 ILLUMINA ss3632999852 Oct 12, 2018 (152)
104 ILLUMINA ss3633699825 Oct 12, 2018 (152)
105 ILLUMINA ss3634475952 Oct 12, 2018 (152)
106 ILLUMINA ss3634475953 Oct 12, 2018 (152)
107 ILLUMINA ss3635391100 Oct 12, 2018 (152)
108 ILLUMINA ss3636160258 Oct 12, 2018 (152)
109 ILLUMINA ss3637142003 Oct 12, 2018 (152)
110 ILLUMINA ss3637931187 Oct 12, 2018 (152)
111 ILLUMINA ss3640183288 Oct 12, 2018 (152)
112 ILLUMINA ss3640183289 Oct 12, 2018 (152)
113 ILLUMINA ss3642927597 Oct 12, 2018 (152)
114 ILLUMINA ss3644575891 Oct 12, 2018 (152)
115 ILLUMINA ss3644575892 Oct 12, 2018 (152)
116 OMUKHERJEE_ADBS ss3646432878 Oct 12, 2018 (152)
117 URBANLAB ss3649708307 Oct 12, 2018 (152)
118 ILLUMINA ss3651744812 Oct 12, 2018 (152)
119 ILLUMINA ss3653729728 Oct 12, 2018 (152)
120 EGCUT_WGS ss3676131038 Jul 13, 2019 (153)
121 EVA_DECODE ss3692627213 Jul 13, 2019 (153)
122 EVA_DECODE ss3692627214 Jul 13, 2019 (153)
123 ILLUMINA ss3725277473 Jul 13, 2019 (153)
124 ACPOP ss3738552452 Jul 13, 2019 (153)
125 ILLUMINA ss3744090896 Jul 13, 2019 (153)
126 ILLUMINA ss3744387590 Jul 13, 2019 (153)
127 ILLUMINA ss3744776728 Jul 13, 2019 (153)
128 ILLUMINA ss3744776729 Jul 13, 2019 (153)
129 EVA ss3749829997 Jul 13, 2019 (153)
130 ILLUMINA ss3772276494 Jul 13, 2019 (153)
131 ILLUMINA ss3772276495 Jul 13, 2019 (153)
132 PACBIO ss3787071673 Jul 13, 2019 (153)
133 PACBIO ss3792195247 Jul 13, 2019 (153)
134 PACBIO ss3797077768 Jul 13, 2019 (153)
135 KHV_HUMAN_GENOMES ss3815160295 Jul 13, 2019 (153)
136 1000Genomes NC_000011.9 - 113270015 Oct 12, 2018 (152)
137 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 30866598 (NC_000011.9:113270014:G:G 1175/3854, NC_000011.9:113270014:G:C 2679/3854)
Row 30866599 (NC_000011.9:113270014:G:G 3853/3854, NC_000011.9:113270014:G:T 1/3854)

- Oct 12, 2018 (152)
138 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 30866598 (NC_000011.9:113270014:G:G 1175/3854, NC_000011.9:113270014:G:C 2679/3854)
Row 30866599 (NC_000011.9:113270014:G:G 3853/3854, NC_000011.9:113270014:G:T 1/3854)

- Oct 12, 2018 (152)
139 Genetic variation in the Estonian population NC_000011.9 - 113270015 Oct 12, 2018 (152)
140 ExAC

Submission ignored due to conflicting rows:
Row 913142 (NC_000011.9:113270014:G:G 31764/94126, NC_000011.9:113270014:G:C 62362/94126)
Row 913143 (NC_000011.9:113270014:G:G 93914/94126, NC_000011.9:113270014:G:T 212/94126)
Row 913144 (NC_000011.9:113270014:G:G 94102/94126, NC_000011.9:113270014:G:A 24/94126)

- Oct 12, 2018 (152)
141 ExAC

Submission ignored due to conflicting rows:
Row 913142 (NC_000011.9:113270014:G:G 31764/94126, NC_000011.9:113270014:G:C 62362/94126)
Row 913143 (NC_000011.9:113270014:G:G 93914/94126, NC_000011.9:113270014:G:T 212/94126)
Row 913144 (NC_000011.9:113270014:G:G 94102/94126, NC_000011.9:113270014:G:A 24/94126)

- Oct 12, 2018 (152)
142 ExAC

Submission ignored due to conflicting rows:
Row 913142 (NC_000011.9:113270014:G:G 31764/94126, NC_000011.9:113270014:G:C 62362/94126)
Row 913143 (NC_000011.9:113270014:G:G 93914/94126, NC_000011.9:113270014:G:T 212/94126)
Row 913144 (NC_000011.9:113270014:G:G 94102/94126, NC_000011.9:113270014:G:A 24/94126)

- Oct 12, 2018 (152)
143 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 151841771 (NC_000011.9:113270014:G:G 31334/31336, NC_000011.9:113270014:G:A 2/31336)
Row 151841772 (NC_000011.9:113270014:G:G 12402/31336, NC_000011.9:113270014:G:C 18934/31336)
Row 151841773 (NC_000011.9:113270014:G:G 31165/31336, NC_000011.9:113270014:G:T 171/31336)

- Jul 13, 2019 (153)
144 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 151841771 (NC_000011.9:113270014:G:G 31334/31336, NC_000011.9:113270014:G:A 2/31336)
Row 151841772 (NC_000011.9:113270014:G:G 12402/31336, NC_000011.9:113270014:G:C 18934/31336)
Row 151841773 (NC_000011.9:113270014:G:G 31165/31336, NC_000011.9:113270014:G:T 171/31336)

- Jul 13, 2019 (153)
145 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 151841771 (NC_000011.9:113270014:G:G 31334/31336, NC_000011.9:113270014:G:A 2/31336)
Row 151841772 (NC_000011.9:113270014:G:G 12402/31336, NC_000011.9:113270014:G:C 18934/31336)
Row 151841773 (NC_000011.9:113270014:G:G 31165/31336, NC_000011.9:113270014:G:T 171/31336)

- Jul 13, 2019 (153)
146 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 8613442 (NC_000011.9:113270014:G:G 227868/227906, NC_000011.9:113270014:G:A 38/227906)
Row 8613443 (NC_000011.9:113270014:G:G 81798/227906, NC_000011.9:113270014:G:C 146108/227906)
Row 8613444 (NC_000011.9:113270014:G:G 227441/227906, NC_000011.9:113270014:G:T 465/227906)

- Jul 13, 2019 (153)
147 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 8613442 (NC_000011.9:113270014:G:G 227868/227906, NC_000011.9:113270014:G:A 38/227906)
Row 8613443 (NC_000011.9:113270014:G:G 81798/227906, NC_000011.9:113270014:G:C 146108/227906)
Row 8613444 (NC_000011.9:113270014:G:G 227441/227906, NC_000011.9:113270014:G:T 465/227906)

- Jul 13, 2019 (153)
148 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 8613442 (NC_000011.9:113270014:G:G 227868/227906, NC_000011.9:113270014:G:A 38/227906)
Row 8613443 (NC_000011.9:113270014:G:G 81798/227906, NC_000011.9:113270014:G:C 146108/227906)
Row 8613444 (NC_000011.9:113270014:G:G 227441/227906, NC_000011.9:113270014:G:T 465/227906)

- Jul 13, 2019 (153)
149 GO Exome Sequencing Project NC_000011.9 - 113270015 Oct 12, 2018 (152)
150 Northern Sweden NC_000011.9 - 113270015 Jul 13, 2019 (153)
151 TopMed NC_000011.10 - 113399293 Oct 12, 2018 (152)
152 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 30866598 (NC_000011.9:113270014:G:G 1143/3708, NC_000011.9:113270014:G:C 2565/3708)
Row 30866599 (NC_000011.9:113270014:G:G 3704/3708, NC_000011.9:113270014:G:T 4/3708)

- Oct 12, 2018 (152)
153 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 30866598 (NC_000011.9:113270014:G:G 1143/3708, NC_000011.9:113270014:G:C 2565/3708)
Row 30866599 (NC_000011.9:113270014:G:G 3704/3708, NC_000011.9:113270014:G:T 4/3708)

- Oct 12, 2018 (152)
154 A Vietnamese Genetic Variation Database NC_000011.9 - 113270015 Jul 13, 2019 (153)
Help

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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss1690636780, ss2739394720, ss2748741536, ss2904623239 NC_000011.9:113270014:G:A NC_000011.10:113399292:G:A (self)
ss3156775189 NC_000011.10:113399292:G:A NC_000011.10:113399292:G:A (self)
ss78684365, ss88801103, ss111100441, ss168755715, ss175282620, ss203227883, ss207927718, ss255384313, ss281176530, ss286460470, ss291142821, ss481107238, ss491654170, ss3642927597 NC_000011.8:112775224:G:C NC_000011.10:113399292:G:C (self)
55608628, 21869286, 1129748, 11837317, 6850597, ss225469553, ss235724738, ss242321830, ss481129208, ss482119756, ss485348685, ss491029398, ss491459253, ss534429782, ss562835297, ss658358343, ss713049484, ss778342418, ss780904158, ss783120077, ss783591402, ss784076859, ss832378844, ss833797033, ss974481180, ss988978241, ss1067528196, ss1078056460, ss1343024200, ss1426765520, ss1575961508, ss1627494133, ss1670488166, ss1690636778, ss1711309096, ss1751995110, ss1751995111, ss1807003614, ss1917866574, ss1932339385, ss1946323029, ss1946323030, ss1959386536, ss1959386538, ss1967462486, ss2026913589, ss2155226128, ss2627931625, ss2632889046, ss2699536285, ss2710746397, ss2739394720, ss2748741536, ss2904623239, ss2984957600, ss2985598997, ss3008803489, ss3021377252, ss3023067127, ss3349801551, ss3625609785, ss3626753083, ss3626753084, ss3630902917, ss3632999852, ss3633699825, ss3634475952, ss3634475953, ss3635391100, ss3636160258, ss3637142003, ss3637931187, ss3640183288, ss3640183289, ss3644575891, ss3644575892, ss3646432878, ss3651744812, ss3653729728, ss3676131038, ss3738552452, ss3744090896, ss3744387590, ss3744776728, ss3744776729, ss3749829997, ss3772276494, ss3772276495, ss3787071673, ss3792195247, ss3797077768 NC_000011.9:113270014:G:C NC_000011.10:113399292:G:C (self)
72747150, ss2185828560, ss3027257462, ss3156775190, ss3649708307, ss3692627213, ss3725277473, ss3815160295 NC_000011.10:113399292:G:C NC_000011.10:113399292:G:C (self)
ss15908240, ss19921708, ss20845180 NT_033899.6:16813798:G:C NC_000011.10:113399292:G:C (self)
ss76892195 NT_033899.7:16832430:G:C NC_000011.10:113399292:G:C (self)
ss6829727, ss24101853, ss38678186, ss48533364, ss65728556, ss69329201, ss69359381, ss74896572, ss97418965, ss103002111, ss132838609, ss137852195, ss160730021, ss173882185 NT_033899.8:16832430:G:C NC_000011.10:113399292:G:C (self)
55608628, ss562835297, ss974481180, ss1067528196, ss1343024201, ss1627494134, ss1670488167, ss1690636779, ss1711309095, ss2739394720, ss2748741536, ss2904623239, ss3008803490 NC_000011.9:113270014:G:T NC_000011.10:113399292:G:T (self)
ss2185828560, ss3156775191, ss3692627214 NC_000011.10:113399292:G:T NC_000011.10:113399292:G:T (self)
Help

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

2 citations for rs4938016
PMID Title Author Year Journal
18698520 Single nucleotide polymorphisms in ANKK1 and the dopamine D2 receptor gene affect cognitive outcome shortly after traumatic brain injury: a replication and extension study. McAllister TW et al. 2008 Brain injury
21095016 Association of DRD2 and ANKK1 polymorphisms with prolactin increase in olanzapine-treated women. Houston J et al. 2011 Psychiatry research

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.

Software version is: 2.0.1.post308+0fe9b3b