SNP Detail Info-rs1251172

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0480 (14368/29914,GnomAD)
G==0452 (13183/29118,TOPMED)
A=0475 (2377/5008,1000G)
G==0477 (1838/3854,ALSPAC)
G==0493 (1828/3708,TWINSUK)

Position: chr2:129241617 (GRCh38.p7) (2q21.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 16 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.129241617G>A
GRCh37.p13 chr 2	NC_000002.11:g.129999190G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.373	A=0.627
1000Genomes	American	Sub	694	G=0.540	A=0.460
1000Genomes	East Asian	Sub	1008	G=0.748	A=0.252
1000Genomes	Europe	Sub	1006	G=0.464	A=0.536
1000Genomes	Global	Study-wide	5008	G=0.525	A=0.475
1000Genomes	South Asian	Sub	978	G=0.560	A=0.440
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.477	A=0.523
The Genome Aggregation Database	African	Sub	8704	G=0.411	A=0.589
The Genome Aggregation Database	American	Sub	836	G=0.550	A=0.450
The Genome Aggregation Database	East Asian	Sub	1612	G=0.800	A=0.200
The Genome Aggregation Database	Europe	Sub	18460	G=0.482	A=0.517
The Genome Aggregation Database	Global	Study-wide	29914	G=0.480	A=0.519
The Genome Aggregation Database	Other	Sub	302	G=0.440	A=0.560
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.452	A=0.547
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.493	A=0.507

PMID	Title	Author	Journal
24962325	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Kapoor M	Drug Alcohol Depend

SNP ID	p-value	Traits	Study
rs1251172	7.64E-07	alcohol dependence (age at onset)	24962325

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 )
chr2	129990903	129991022	E070	-8168
chr2	129991443	129991904	E070	-7286
chr2	129990903	129991022	E081	-8168
chr2	129991443	129991904	E081	-7286
chr2	129996773	129997036	E081	-2154
chr2	130010223	130010353	E081	11033
chr2	130010398	130011293	E081	11208
chr2	130038915	130039052	E081	39725
chr2	130039472	130039687	E081	40282
chr2	130039843	130039996	E081	40653
chr2	129996773	129997036	E082	-2154
chr2	130010223	130010353	E082	11033
chr2	130038591	130038845	E082	39401
chr2	130038915	130039052	E082	39725
chr2	130039472	130039687	E082	40282
chr2	130039843	130039996	E082	40653

rs1251172