SNP Detail Info-rs4626318

Organism: Homo sapiens

Alleles: A>C

Gene : Feature

ANKRD31 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0179 (5360/29948,GnomAD)
C=0168 (4894/29118,TOPMED)
C=0230 (1154/5008,1000G)
C=0210 (811/3854,ALSPAC)
C=0216 (801/3708,TWINSUK)

Position: chr5:75069932 (GRCh38.p7) (5q13.3)

Phenotype: CD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 19 Enhancers around

Promoter: 13 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 5	NC_000005.10:g.75069932A>C
GRCh37.p13 chr 5	NC_000005.9:g.74365757A>C

Molecule type	Change	Amino acid[Codon]	SO Term
ANKRD31 transcript	NM_001164443.1:c.	N/A	Intron Variant
ANKRD31 transcript variant X1	XM_011543298.2:c.	N/A	Intron Variant
ANKRD31 transcript variant X2	XM_011543299.1:c.	N/A	Intron Variant
ANKRD31 transcript variant X3	XM_011543300.2:c.	N/A	Intron Variant
ANKRD31 transcript variant X6	XM_011543301.2:c.	N/A	Intron Variant
ANKRD31 transcript variant X9	XM_011543302.2:c.	N/A	Intron Variant
ANKRD31 transcript variant X4	XM_017009317.1:c.	N/A	Intron Variant
ANKRD31 transcript variant X5	XM_017009318.1:c.	N/A	Intron Variant
ANKRD31 transcript variant X8	XM_017009319.1:c.	N/A	Intron Variant
ANKRD31 transcript variant X10	XM_017009320.1:c.	N/A	Intron Variant
ANKRD31 transcript variant X12	XM_017009321.1:c.	N/A	Intron Variant
ANKRD31 transcript variant X11	XM_017009322.1:c.	N/A	Genic Downstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.892	C=0.108
1000Genomes	American	Sub	694	A=0.780	C=0.220
1000Genomes	East Asian	Sub	1008	A=0.808	C=0.192
1000Genomes	Europe	Sub	1006	A=0.754	C=0.246
1000Genomes	Global	Study-wide	5008	A=0.770	C=0.230
1000Genomes	South Asian	Sub	978	A=0.570	C=0.430
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.790	C=0.210
The Genome Aggregation Database	African	Sub	8724	A=0.897	C=0.103
The Genome Aggregation Database	American	Sub	836	A=0.780	C=0.220
The Genome Aggregation Database	East Asian	Sub	1616	A=0.816	C=0.184
The Genome Aggregation Database	Europe	Sub	18470	A=0.790	C=0.209
The Genome Aggregation Database	Global	Study-wide	29948	A=0.821	C=0.179
The Genome Aggregation Database	Other	Sub	302	A=0.670	C=0.330
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.831	C=0.168
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.784	C=0.216

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

SNP ID	p-value	Traits	Study
rs4626318	1.82E-06	cocaine dependence	23958962

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

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr5	74339724	74339935	E067	-25822
chr5	74340290	74340402	E067	-25355
chr5	74340531	74340601	E067	-25156
chr5	74345087	74345154	E067	-20603
chr5	74339724	74339935	E071	-25822
chr5	74340290	74340402	E071	-25355
chr5	74340290	74340402	E072	-25355
chr5	74340531	74340601	E072	-25156
chr5	74345465	74346619	E073	-19138
chr5	74338349	74338506	E081	-27251
chr5	74338539	74338646	E081	-27111
chr5	74344273	74344793	E081	-20964
chr5	74345087	74345154	E081	-20603
chr5	74345465	74346619	E081	-19138
chr5	74337943	74338088	E082	-27669
chr5	74338349	74338506	E082	-27251
chr5	74344273	74344793	E082	-20964
chr5	74345087	74345154	E082	-20603
chr5	74345465	74346619	E082	-19138

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr5	74346949	74348006	E067	-17751
chr5	74348106	74350972	E067	-14785
chr5	74346949	74348006	E068	-17751
chr5	74348106	74350972	E068	-14785
chr5	74348106	74350972	E069	-14785
chr5	74348106	74350972	E070	-14785
chr5	74348106	74350972	E071	-14785
chr5	74346949	74348006	E072	-17751
chr5	74348106	74350972	E072	-14785
chr5	74346949	74348006	E073	-17751
chr5	74348106	74350972	E073	-14785
chr5	74348106	74350972	E074	-14785
chr5	74348106	74350972	E082	-14785

rs4626318