SNP Detail Info-rs1266294

Organism: Homo sapiens

Alleles: A>C

Gene : Feature

LOC105370478 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0366 (10955/29934,GnomAD)
C=0339 (9870/29118,TOPMED)
C=0310 (1550/5008,1000G)
C=0410 (1580/3854,ALSPAC)
C=0398 (1477/3708,TWINSUK)

Position: chr14:45763651 (GRCh38.p7) (14q21.2)

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 14	NC_000014.9:g.45763651A>C
GRCh37.p13 chr 14	NC_000014.8:g.46232854A>C

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105370478 transcript	XR_001750751.1:n.	N/A	Intron Variant
LOC105370478 transcript variant X2	XR_001750752.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.741	C=0.259
1000Genomes	American	Sub	694	A=0.730	C=0.270
1000Genomes	East Asian	Sub	1008	A=0.680	C=0.320
1000Genomes	Europe	Sub	1006	A=0.594	C=0.406
1000Genomes	Global	Study-wide	5008	A=0.690	C=0.310
1000Genomes	South Asian	Sub	978	A=0.710	C=0.290
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.590	C=0.410
The Genome Aggregation Database	African	Sub	8720	A=0.719	C=0.281
The Genome Aggregation Database	American	Sub	838	A=0.760	C=0.240
The Genome Aggregation Database	East Asian	Sub	1614	A=0.669	C=0.331
The Genome Aggregation Database	Europe	Sub	18460	A=0.584	C=0.415
The Genome Aggregation Database	Global	Study-wide	29934	A=0.634	C=0.366
The Genome Aggregation Database	Other	Sub	302	A=0.640	C=0.360
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.661	C=0.339
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.602	C=0.398

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
rs1266294	7.6E-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

rs1266294