SNP Detail Info-rs10054860

Organism: Homo sapiens

Alleles: T>G

Gene : Feature

ANKRD31 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0179 (5355/29870,GnomAD)
G=0168 (4898/29118,TOPMED)
G=0231 (1157/5008,1000G)
G=0210 (809/3854,ALSPAC)
G=0215 (798/3708,TWINSUK)

Position: chr5:75150979 (GRCh38.p7) (5q13.3)

Phenotype: CD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 5	NC_000005.10:g.75150979T>G
GRCh37.p13 chr 5	NC_000005.9:g.74446804T>G

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	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.888	G=0.112
1000Genomes	American	Sub	694	T=0.780	G=0.220
1000Genomes	East Asian	Sub	1008	T=0.808	G=0.192
1000Genomes	Europe	Sub	1006	T=0.751	G=0.249
1000Genomes	Global	Study-wide	5008	T=0.769	G=0.231
1000Genomes	South Asian	Sub	978	T=0.580	G=0.420
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.790	G=0.210
The Genome Aggregation Database	African	Sub	8712	T=0.897	G=0.103
The Genome Aggregation Database	American	Sub	836	T=0.770	G=0.230
The Genome Aggregation Database	East Asian	Sub	1586	T=0.813	G=0.187
The Genome Aggregation Database	Europe	Sub	18434	T=0.789	G=0.210
The Genome Aggregation Database	Global	Study-wide	29870	T=0.820	G=0.179
The Genome Aggregation Database	Other	Sub	302	T=0.670	G=0.330
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.831	G=0.168
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.785	G=0.215

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
rs10054860	2.53E-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

rs10054860