SNP Detail Info-rs2463107

Organism: Homo sapiens

Alleles: A>C

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0349 (10470/29934,GnomAD)
C=0454 (13247/29118,TOPMED)
C=0424 (2122/5008,1000G)
C=0170 (657/3854,ALSPAC)
C=0200 (742/3708,TWINSUK)

Position: chr12:79699537 (GRCh38.p7) (12q21.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 19 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.79699537A>C
GRCh37.p13 chr 12	NC_000012.11:g.80093317A>C

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.156	C=0.844
1000Genomes	American	Sub	694	A=0.770	C=0.230
1000Genomes	East Asian	Sub	1008	A=0.611	C=0.389
1000Genomes	Europe	Sub	1006	A=0.811	C=0.189
1000Genomes	Global	Study-wide	5008	A=0.576	C=0.424
1000Genomes	South Asian	Sub	978	A=0.730	C=0.270
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.830	C=0.170
The Genome Aggregation Database	African	Sub	8704	A=0.255	C=0.745
The Genome Aggregation Database	American	Sub	836	A=0.780	C=0.220
The Genome Aggregation Database	East Asian	Sub	1608	A=0.575	C=0.425
The Genome Aggregation Database	Europe	Sub	18484	A=0.835	C=0.164
The Genome Aggregation Database	Global	Study-wide	29934	A=0.650	C=0.349
The Genome Aggregation Database	Other	Sub	302	A=0.740	C=0.260
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.545	C=0.454
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.800	C=0.200

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
20122683	An association analysis of circadian genes in anxiety disorders.	Sipila T	Biol Psychiatry

SNP ID	p-value	Traits	Study
rs2463107	7.3E-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

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	80081581	80082226	E067	-11091
chr12	80082320	80082444	E067	-10873
chr12	80082495	80086388	E067	-6929
chr12	80081454	80081521	E068	-11796
chr12	80081581	80082226	E068	-11091
chr12	80082320	80082444	E068	-10873
chr12	80082495	80086388	E068	-6929
chr12	80082495	80086388	E069	-6929
chr12	80082320	80082444	E070	-10873
chr12	80082495	80086388	E070	-6929
chr12	80082320	80082444	E071	-10873
chr12	80082495	80086388	E071	-6929
chr12	80082320	80082444	E072	-10873
chr12	80082495	80086388	E072	-6929
chr12	80082495	80086388	E073	-6929
chr12	80082495	80086388	E074	-6929
chr12	80082495	80086388	E081	-6929
chr12	80082320	80082444	E082	-10873
chr12	80082495	80086388	E082	-6929

rs2463107