SNP Detail Info-rs904095

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

ADH1C : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0333 (9950/29834,GnomAD)
G=0261 (7619/29118,TOPMED)
G=0214 (1073/5008,1000G)
G=0392 (1511/3854,ALSPAC)
G=0407 (1509/3708,TWINSUK)

Position: chr4:99342226 (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=0.901	G=0.099
1000Genomes	American	Sub	694	A=0.730	G=0.270
1000Genomes	East Asian	Sub	1008	A=0.924	G=0.076
1000Genomes	Europe	Sub	1006	A=0.595	G=0.405
1000Genomes	Global	Study-wide	5008	A=0.786	G=0.214
1000Genomes	South Asian	Sub	978	A=0.720	G=0.280
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.608	G=0.392
The Genome Aggregation Database	African	Sub	8710	A=0.855	G=0.145
The Genome Aggregation Database	American	Sub	828	A=0.680	G=0.320
The Genome Aggregation Database	East Asian	Sub	1614	A=0.913	G=0.087
The Genome Aggregation Database	Europe	Sub	18380	A=0.553	G=0.446
The Genome Aggregation Database	Global	Study-wide	29834	A=0.666	G=0.333
The Genome Aggregation Database	Other	Sub	302	A=0.750	G=0.250
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.738	G=0.261
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.593	G=0.407

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
rs904095	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	-17497
chr4	100221669	100221897	E070	-41486
chr4	100244954	100245162	E073	-18221
chr4	100245344	100245493	E073	-17890
chr4	100221669	100221897	E082	-41486
chr4	100222048	100222444	E082	-40939

rs904095