rs1347222

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0394 (11797/29894,GnomAD)
T==0363 (10590/29118,TOPMED)
T==0395 (1980/5008,1000G)
T==0387 (1492/3854,ALSPAC)
T==0369 (1368/3708,TWINSUK)
chr12:82000375 (GRCh38.p7) (12q21.31)
AD
GWASdb2
2   publication(s)
See rs on genome
8 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.82000375T>C
GRCh37.p13 chr 12NC_000012.11:g.82394154T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.360C=0.640
1000GenomesAmericanSub694T=0.300C=0.700
1000GenomesEast AsianSub1008T=0.462C=0.538
1000GenomesEuropeSub1006T=0.373C=0.627
1000GenomesGlobalStudy-wide5008T=0.395C=0.605
1000GenomesSouth AsianSub978T=0.470C=0.530
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.387C=0.613
The Genome Aggregation DatabaseAfricanSub8714T=0.389C=0.611
The Genome Aggregation DatabaseAmericanSub832T=0.330C=0.670
The Genome Aggregation DatabaseEast AsianSub1594T=0.518C=0.482
The Genome Aggregation DatabaseEuropeSub18452T=0.390C=0.609
The Genome Aggregation DatabaseGlobalStudy-wide29894T=0.394C=0.605
The Genome Aggregation DatabaseOtherSub302T=0.330C=0.670
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.363C=0.636
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.369C=0.631
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry
17903307Framingham Heart Study genome-wide association: results for pulmonary function measures.Wilk JBBMC Med Genet

P-Value

SNP ID p-value Traits Study
rs13472223.4E-05alcoholism (heaviness of drinking)21529783

eQTL of rs1347222 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs1347222 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr128235293282353011E081-41143
chr128235346682353545E081-40609
chr128235355682353638E081-40516
chr128235126182351848E082-42306
chr128235190882352579E082-41575
chr128235293282353011E082-41143
chr128235346682353545E082-40609
chr128235355682353638E082-40516