SNP Detail Info-rs7316050

Organism: Homo sapiens

Alleles: A>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0465 (13928/29892,GnomAD)
T=0465 (13552/29118,TOPMED)
T=0428 (2141/5008,1000G)
T=0448 (1728/3854,ALSPAC)
T=0454 (1685/3708,TWINSUK)

Position: chr12:118458665 (GRCh38.p7) (12q24.23)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 22 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.118458665A>T
GRCh37.p13 chr 12	NC_000012.11:g.118896470A>T

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.482	T=0.518
1000Genomes	American	Sub	694	A=0.570	T=0.430
1000Genomes	East Asian	Sub	1008	A=0.659	T=0.341
1000Genomes	Europe	Sub	1006	A=0.533	T=0.467
1000Genomes	Global	Study-wide	5008	A=0.572	T=0.428
1000Genomes	South Asian	Sub	978	A=0.650	T=0.350
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.552	T=0.448
The Genome Aggregation Database	African	Sub	8704	A=0.485	T=0.515
The Genome Aggregation Database	American	Sub	836	A=0.530	T=0.470
The Genome Aggregation Database	East Asian	Sub	1612	A=0.661	T=0.339
The Genome Aggregation Database	Europe	Sub	18438	A=0.545	T=0.454
The Genome Aggregation Database	Global	Study-wide	29892	A=0.534	T=0.465
The Genome Aggregation Database	Other	Sub	302	A=0.540	T=0.460
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.534	T=0.465
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.546	T=0.454

PMID	Title	Author	Journal
21314694	Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.	Kendler KS	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs7316050	4.78E-05	alcohol dependence	21314694

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 )
chr12	118850123	118850321	E067	-46149
chr12	118850362	118850427	E067	-46043
chr12	118850123	118850321	E068	-46149
chr12	118850362	118850427	E068	-46043
chr12	118850123	118850321	E069	-46149
chr12	118850362	118850427	E069	-46043
chr12	118850565	118850891	E069	-45579
chr12	118850123	118850321	E071	-46149
chr12	118850362	118850427	E071	-46043
chr12	118850565	118850891	E071	-45579
chr12	118850926	118851005	E071	-45465
chr12	118850123	118850321	E072	-46149
chr12	118850362	118850427	E072	-46043
chr12	118850123	118850321	E073	-46149
chr12	118850362	118850427	E073	-46043
chr12	118850565	118850891	E073	-45579
chr12	118850123	118850321	E074	-46149
chr12	118850362	118850427	E074	-46043
chr12	118850565	118850891	E074	-45579
chr12	118937916	118938055	E081	41446
chr12	118938171	118938415	E081	41701
chr12	118874560	118875244	E082	-21226

rs7316050