SNP Detail Info-rs728260

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

LOC105375147 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0428 (12806/29870,GnomAD)
A=0380 (11088/29118,TOPMED)
A=0329 (1646/5008,1000G)
G==0449 (1730/3854,ALSPAC)
G==0457 (1693/3708,TWINSUK)

Position: chr7:9863728 (GRCh38.p7) (7p21.3)

Phenotype: AD

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 7	NC_000007.14:g.9863728G>A
GRCh37.p13 chr 7	NC_000007.13:g.9903357G>A

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105375147 transcript	XR_927026.2:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.815	A=0.185
1000Genomes	American	Sub	694	G=0.610	A=0.390
1000Genomes	East Asian	Sub	1008	G=0.793	A=0.207
1000Genomes	Europe	Sub	1006	G=0.472	A=0.528
1000Genomes	Global	Study-wide	5008	G=0.671	A=0.329
1000Genomes	South Asian	Sub	978	G=0.600	A=0.400
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.449	A=0.551
The Genome Aggregation Database	African	Sub	8696	G=0.744	A=0.256
The Genome Aggregation Database	American	Sub	838	G=0.590	A=0.410
The Genome Aggregation Database	East Asian	Sub	1584	G=0.806	A=0.194
The Genome Aggregation Database	Europe	Sub	18450	G=0.470	A=0.529
The Genome Aggregation Database	Global	Study-wide	29870	G=0.571	A=0.428
The Genome Aggregation Database	Other	Sub	302	G=0.470	A=0.530
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.619	A=0.380
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.457	A=0.543

PMID	Title	Author	Journal
21529783	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Heath AC	Biol Psychiatry

SNP ID	p-value	Traits	Study
rs728260	2E-05	alcoholism (heaviness of drinking)	21529783

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

rs728260