SNP Detail Info-rs6532815

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

ADH1C : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0091 (2738/29940,GnomAD)
G=0101 (2953/29118,TOPMED)
G=0137 (684/5008,1000G)
G=0065 (249/3854,ALSPAC)
G=0070 (259/3708,TWINSUK)

Position: chr4:99345999 (GRCh38.p7) (4q23)

Phenotype: AD

Dataset:

GWASCatalog

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 6 Enhancers around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
ADH1C transcript variant 1	NM_000669.4:c.	N/A	Intron Variant
ADH1C transcript variant 2	NR_133005.1:n.	N/A	Intron Variant
ADH1C transcript variant X1	XM_011531588.2:c.	N/A	Intron Variant
ADH1C transcript variant X2	XM_011531589.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.883	G=0.117
1000Genomes	American	Sub	694	A=0.640	G=0.360
1000Genomes	East Asian	Sub	1008	A=0.841	G=0.159
1000Genomes	Europe	Sub	1006	A=0.919	G=0.081
1000Genomes	Global	Study-wide	5008	A=0.863	G=0.137
1000Genomes	South Asian	Sub	978	A=0.960	G=0.040
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.935	G=0.065
The Genome Aggregation Database	African	Sub	8722	A=0.896	G=0.104
The Genome Aggregation Database	American	Sub	836	A=0.680	G=0.320
The Genome Aggregation Database	East Asian	Sub	1614	A=0.821	G=0.179
The Genome Aggregation Database	Europe	Sub	18466	A=0.934	G=0.065
The Genome Aggregation Database	Global	Study-wide	29940	A=0.908	G=0.091
The Genome Aggregation Database	Other	Sub	302	A=0.780	G=0.220
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.898	G=0.101
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.930	G=0.070

PMID	Title	Author	Journal
24166409	Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci.	Gelernter J	Mol Psychiatry

SNP ID	p-value	Traits	Study
rs6532815	2E-06	alcohol dependence	24166409

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 )
chr4	100245602	100245886	E068	-21270
chr4	100221669	100221897	E070	-45259
chr4	100244954	100245162	E073	-21994
chr4	100245344	100245493	E073	-21663
chr4	100221669	100221897	E082	-45259
chr4	100222048	100222444	E082	-44712

rs6532815