SNP Detail Info-rs16950632

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

ABCC4 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0059 (1780/29990,GnomAD)
A=0081 (2374/29118,TOPMED)
A=0065 (324/5008,1000G)
A=0017 (64/3854,ALSPAC)
A=0015 (54/3708,TWINSUK)

Position: chr13:95109632 (GRCh38.p7) (13q32.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 4 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 13	NC_000013.11:g.95109632G>A
GRCh37.p13 chr 13	NC_000013.10:g.95761886G>A

Molecule type	Change	Amino acid[Codon]	SO Term
ABCC4 transcript variant 2	NM_001105515.2:c.	N/A	Intron Variant
ABCC4 transcript variant 3	NM_001301829.1:c.	N/A	Intron Variant
ABCC4 transcript variant 4	NM_001301830.1:c.	N/A	Intron Variant
ABCC4 transcript variant 1	NM_005845.4:c.	N/A	Intron Variant
ABCC4 transcript variant X2	XM_005254025.2:c.	N/A	Intron Variant
ABCC4 transcript variant X1	XM_017020319.1:c.	N/A	Intron Variant
ABCC4 transcript variant X4	XM_017020321.1:c.	N/A	Intron Variant
ABCC4 transcript variant X5	XM_017020322.1:c.	N/A	Intron Variant
ABCC4 transcript variant X3	XM_017020320.1:c.	N/A	Genic Downstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.811	A=0.189
1000Genomes	American	Sub	694	G=0.970	A=0.030
1000Genomes	East Asian	Sub	1008	G=0.976	A=0.024
1000Genomes	Europe	Sub	1006	G=0.988	A=0.012
1000Genomes	Global	Study-wide	5008	G=0.935	A=0.065
1000Genomes	South Asian	Sub	978	G=0.980	A=0.020
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.983	A=0.017
The Genome Aggregation Database	African	Sub	8722	G=0.854	A=0.146
The Genome Aggregation Database	American	Sub	838	G=0.980	A=0.020
The Genome Aggregation Database	East Asian	Sub	1622	G=0.978	A=0.022
The Genome Aggregation Database	Europe	Sub	18506	G=0.976	A=0.023
The Genome Aggregation Database	Global	Study-wide	29990	G=0.940	A=0.059
The Genome Aggregation Database	Other	Sub	302	G=0.950	A=0.050
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.918	A=0.081
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.985	A=0.015

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs16950632	0.000635	alcohol dependence	20201924

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 )
chr13	95726205	95726366	E069	-35520
chr13	95805921	95807180	E070	44035
chr13	95807880	95808389	E070	45994
chr13	95808570	95808722	E070	46684

rs16950632