rs961098

Organism: Homo sapiens

Alleles: G>A / G>C

Gene : Feature

ANKRD31 : Missense Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0133 (3997/29956,GnomAD)
C=0134 (3905/29118,TOPMED)
C=0260 (4558/17474,ExAC)
C=0213 (1065/5008,1000G)
G==0134 (614/4566,GO-ESP)
C=0150 (577/3854,ALSPAC)
C=0157 (583/3708,TWINSUK)

Position: chr5:75104561 (GRCh38.p7) (5q13.3)

Phenotype: CD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 24 Enhancers around

Promoter: 34 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 5	NC_000005.10:g.75104561G>A
GRCh38.p7 chr 5	NC_000005.10:g.75104561G>C
GRCh37.p13 chr 5	NC_000005.9:g.74400386G>A
GRCh37.p13 chr 5	NC_000005.9:g.74400386G>C

Gene: ANKRD31, ankyrin repeat domain 31(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ANKRD31 transcript	NM_001164443.1:c....NM_001164443.1:c.4827C>T	D [GAC]> D [GAT]	Coding Sequence Variant
putative ankyrin repeat domain-containing protein 31	NP_001157915.1:p....NP_001157915.1:p.Asp1609=	D [Asp]> D [Asp]	Synonymous Variant
ANKRD31 transcript	NM_001164443.1:c....NM_001164443.1:c.4827C>G	D [GAC]> E [GAG]	Coding Sequence Variant
putative ankyrin repeat domain-containing protein 31	NP_001157915.1:p....NP_001157915.1:p.Asp1609Glu	D [Asp]> E [Glu]	Missense Variant
ANKRD31 transcript variant X11	XM_017009322.1:c.	N/A	Genic Downstream Transcript Variant
ANKRD31 transcript variant X2	XM_011543299.1:c....XM_011543299.1:c.4998C>T	D [GAC]> D [GAT]	Coding Sequence Variant
putative ankyrin repeat domain-containing protein 31 isoform X2	XP_011541601.1:p....XP_011541601.1:p.Asp1666=	D [Asp]> D [Asp]	Synonymous Variant
ANKRD31 transcript variant X2	XM_011543299.1:c....XM_011543299.1:c.4998C>G	D [GAC]> E [GAG]	Coding Sequence Variant
putative ankyrin repeat domain-containing protein 31 isoform X2	XP_011541601.1:p....XP_011541601.1:p.Asp1666Glu	D [Asp]> E [Glu]	Missense Variant
ANKRD31 transcript variant X1	XM_011543298.2:c....XM_011543298.2:c.5001C>T	D [GAC]> D [GAT]	Coding Sequence Variant
putative ankyrin repeat domain-containing protein 31 isoform X1	XP_011541600.1:p....XP_011541600.1:p.Asp1667=	D [Asp]> D [Asp]	Synonymous Variant
ANKRD31 transcript variant X1	XM_011543298.2:c....XM_011543298.2:c.5001C>G	D [GAC]> E [GAG]	Coding Sequence Variant
putative ankyrin repeat domain-containing protein 31 isoform X1	XP_011541600.1:p....XP_011541600.1:p.Asp1667Glu	D [Asp]> E [Glu]	Missense Variant
ANKRD31 transcript variant X3	XM_011543300.2:c....XM_011543300.2:c.5001C>T	D [GAC]> D [GAT]	Coding Sequence Variant
putative ankyrin repeat domain-containing protein 31 isoform X3	XP_011541602.1:p....XP_011541602.1:p.Asp1667=	D [Asp]> D [Asp]	Synonymous Variant
ANKRD31 transcript variant X3	XM_011543300.2:c....XM_011543300.2:c.5001C>G	D [GAC]> E [GAG]	Coding Sequence Variant
putative ankyrin repeat domain-containing protein 31 isoform X3	XP_011541602.1:p....XP_011541602.1:p.Asp1667Glu	D [Asp]> E [Glu]	Missense Variant
ANKRD31 transcript variant X4	XM_017009317.1:c....XM_017009317.1:c.4902C>T	D [GAC]> D [GAT]	Coding Sequence Variant
putative ankyrin repeat domain-containing protein 31 isoform X4	XP_016864806.1:p....XP_016864806.1:p.Asp1634=	D [Asp]> D [Asp]	Synonymous Variant
ANKRD31 transcript variant X4	XM_017009317.1:c....XM_017009317.1:c.4902C>G	D [GAC]> E [GAG]	Coding Sequence Variant
putative ankyrin repeat domain-containing protein 31 isoform X4	XP_016864806.1:p....XP_016864806.1:p.Asp1634Glu	D [Asp]> E [Glu]	Missense Variant
ANKRD31 transcript variant X5	XM_017009318.1:c....XM_017009318.1:c.5001C>T	D [GAC]> D [GAT]	Coding Sequence Variant
putative ankyrin repeat domain-containing protein 31 isoform X6	XP_016864807.1:p....XP_016864807.1:p.Asp1667=	D [Asp]> D [Asp]	Synonymous Variant
ANKRD31 transcript variant X5	XM_017009318.1:c....XM_017009318.1:c.5001C>G	D [GAC]> E [GAG]	Coding Sequence Variant
putative ankyrin repeat domain-containing protein 31 isoform X6	XP_016864807.1:p....XP_016864807.1:p.Asp1667Glu	D [Asp]> E [Glu]	Missense Variant
ANKRD31 transcript variant X6	XM_011543301.2:c....XM_011543301.2:c.4830C>T	D [GAC]> D [GAT]	Coding Sequence Variant
putative ankyrin repeat domain-containing protein 31 isoform X7	XP_011541603.1:p....XP_011541603.1:p.Asp1610=	D [Asp]> D [Asp]	Synonymous Variant
ANKRD31 transcript variant X6	XM_011543301.2:c....XM_011543301.2:c.4830C>G	D [GAC]> E [GAG]	Coding Sequence Variant
putative ankyrin repeat domain-containing protein 31 isoform X7	XP_011541603.1:p....XP_011541603.1:p.Asp1610Glu	D [Asp]> E [Glu]	Missense Variant
ANKRD31 transcript variant X8	XM_017009319.1:c....XM_017009319.1:c.4710C>T	D [GAC]> D [GAT]	Coding Sequence Variant
putative ankyrin repeat domain-containing protein 31 isoform X8	XP_016864808.1:p....XP_016864808.1:p.Asp1570=	D [Asp]> D [Asp]	Synonymous Variant
ANKRD31 transcript variant X8	XM_017009319.1:c....XM_017009319.1:c.4710C>G	D [GAC]> E [GAG]	Coding Sequence Variant
putative ankyrin repeat domain-containing protein 31 isoform X8	XP_016864808.1:p....XP_016864808.1:p.Asp1570Glu	D [Asp]> E [Glu]	Missense Variant
ANKRD31 transcript variant X9	XM_011543302.2:c....XM_011543302.2:c.4653C>T	D [GAC]> D [GAT]	Coding Sequence Variant
putative ankyrin repeat domain-containing protein 31 isoform X9	XP_011541604.1:p....XP_011541604.1:p.Asp1551=	D [Asp]> D [Asp]	Synonymous Variant
ANKRD31 transcript variant X9	XM_011543302.2:c....XM_011543302.2:c.4653C>G	D [GAC]> E [GAG]	Coding Sequence Variant
putative ankyrin repeat domain-containing protein 31 isoform X9	XP_011541604.1:p....XP_011541604.1:p.Asp1551Glu	D [Asp]> E [Glu]	Missense Variant
ANKRD31 transcript variant X10	XM_017009320.1:c....XM_017009320.1:c.4653C>T	D [GAC]> D [GAT]	Coding Sequence Variant
putative ankyrin repeat domain-containing protein 31 isoform X9	XP_016864809.1:p....XP_016864809.1:p.Asp1551=	D [Asp]> D [Asp]	Synonymous Variant
ANKRD31 transcript variant X10	XM_017009320.1:c....XM_017009320.1:c.4653C>G	D [GAC]> E [GAG]	Coding Sequence Variant
putative ankyrin repeat domain-containing protein 31 isoform X9	XP_016864809.1:p....XP_016864809.1:p.Asp1551Glu	D [Asp]> E [Glu]	Missense Variant
ANKRD31 transcript variant X12	XM_017009321.1:c....XM_017009321.1:c.3699C>T	D [GAC]> D [GAT]	Coding Sequence Variant
putative ankyrin repeat domain-containing protein 31 isoform X11	XP_016864810.1:p....XP_016864810.1:p.Asp1233=	D [Asp]> D [Asp]	Synonymous Variant
ANKRD31 transcript variant X12	XM_017009321.1:c....XM_017009321.1:c.3699C>G	D [GAC]> E [GAG]	Coding Sequence Variant
putative ankyrin repeat domain-containing protein 31 isoform X11	XP_016864810.1:p....XP_016864810.1:p.Asp1233Glu	D [Asp]> E [Glu]	Missense Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.891	C=0.109
1000Genomes	American	Sub	694	G=0.800	C=0.200
1000Genomes	East Asian	Sub	1008	G=0.808	C=0.192
1000Genomes	Europe	Sub	1006	G=0.818	C=0.182
1000Genomes	Global	Study-wide	5008	G=0.787	C=0.213
1000Genomes	South Asian	Sub	978	G=0.580	C=0.420
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.850	C=0.150
The Exome Aggregation Consortium	American	Sub	2108	G=0.895	C=0.105
The Exome Aggregation Consortium	Asian	Sub	8174	G=0.634	C=0.366
The Exome Aggregation Consortium	Europe	Sub	7026	G=0.814	C=0.186
The Exome Aggregation Consortium	Global	Study-wide	17474	G=0.739	C=0.260
The Exome Aggregation Consortium	Other	Sub	166	G=0.780	C=0.220
The Genome Aggregation Database	African	Sub	8730	G=0.906	C=0.094
The Genome Aggregation Database	American	Sub	838	G=0.800	C=0.200
The Genome Aggregation Database	East Asian	Sub	1612	G=0.815	C=0.185
The Genome Aggregation Database	Europe	Sub	18474	G=0.857	C=0.142
The Genome Aggregation Database	Global	Study-wide	29956	G=0.866	C=0.133
The Genome Aggregation Database	Other	Sub	302	G=0.750	C=0.250
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.865	C=0.134
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.843	C=0.157

PMID	Title	Author	Journal
23958962	Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.	Gelernter J	Mol Psychiatry

P-Value

SNP ID	p-value	Traits	Study
rs961098	2.35E-05	cocaine dependence	23958962

eQTL of rs961098 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

meQTL of rs961098 in Fetal Brain

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr5	40791420	40791567	E067	-36652
chr5	40791589	40791781	E067	-36438
chr5	40791844	40792221	E067	-35998
chr5	40799554	40799643	E067	-28576
chr5	40800151	40800246	E067	-27973
chr5	40833096	40833212	E067	4877
chr5	40833568	40833758	E067	5349
chr5	40782050	40782265	E069	-45954
chr5	40799554	40799643	E069	-28576
chr5	40833568	40833758	E069	5349
chr5	40782050	40782265	E070	-45954
chr5	40799554	40799643	E070	-28576
chr5	40833568	40833758	E070	5349
chr5	40782050	40782265	E071	-45954
chr5	40791420	40791567	E071	-36652
chr5	40791589	40791781	E071	-36438
chr5	40833096	40833212	E071	4877
chr5	40833568	40833758	E071	5349
chr5	40799554	40799643	E073	-28576
chr5	40782050	40782265	E074	-45954
chr5	40799554	40799643	E074	-28576
chr5	40833568	40833758	E074	5349
chr5	40833568	40833758	E081	5349
chr5	40799554	40799643	E082	-28576

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr5	40797119	40799252	E067	-28967
chr5	40834242	40836560	E067	6023
chr5	40797119	40799252	E068	-28967
chr5	40834242	40836560	E068	6023
chr5	40841170	40841866	E068	12951
chr5	40841900	40842316	E068	13681
chr5	40797119	40799252	E069	-28967
chr5	40834019	40834074	E069	5800
chr5	40834242	40836560	E069	6023
chr5	40841170	40841866	E069	12951
chr5	40841900	40842316	E069	13681
chr5	40797119	40799252	E070	-28967
chr5	40834242	40836560	E070	6023
chr5	40797119	40799252	E071	-28967
chr5	40834242	40836560	E071	6023
chr5	40841170	40841866	E071	12951
chr5	40841900	40842316	E071	13681
chr5	40797119	40799252	E072	-28967
chr5	40834019	40834074	E072	5800
chr5	40834242	40836560	E072	6023
chr5	40841170	40841866	E072	12951
chr5	40797119	40799252	E073	-28967
chr5	40834242	40836560	E073	6023
chr5	40841170	40841866	E073	12951
chr5	40841900	40842316	E073	13681
chr5	40797119	40799252	E074	-28967
chr5	40834242	40836560	E074	6023
chr5	40841170	40841866	E074	12951
chr5	40841900	40842316	E074	13681
chr5	40854260	40854328	E074	26041
chr5	40797119	40799252	E081	-28967
chr5	40834019	40834074	E081	5800
chr5	40797119	40799252	E082	-28967
chr5	40834242	40836560	E082	6023