rs1734330

Homo sapiens
A>T
None
Check p-value
SNV (Single Nucleotide Variation)
A==0473 (14169/29922,GnomAD)
A==0441 (12842/29118,TOPMED)
T=0483 (2421/5008,1000G)
A==0477 (1839/3854,ALSPAC)
A==0493 (1827/3708,TWINSUK)
chr2:129239415 (GRCh38.p7) (2q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
16 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.129239415A>T
GRCh37.p13 chr 2NC_000002.11:g.129996988A>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.340T=0.660
1000GenomesAmericanSub694A=0.530T=0.470
1000GenomesEast AsianSub1008A=0.749T=0.251
1000GenomesEuropeSub1006A=0.463T=0.537
1000GenomesGlobalStudy-wide5008A=0.517T=0.483
1000GenomesSouth AsianSub978A=0.560T=0.440
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.477T=0.523
The Genome Aggregation DatabaseAfricanSub8712A=0.388T=0.612
The Genome Aggregation DatabaseAmericanSub836A=0.550T=0.450
The Genome Aggregation DatabaseEast AsianSub1618A=0.803T=0.197
The Genome Aggregation DatabaseEuropeSub18454A=0.482T=0.517
The Genome Aggregation DatabaseGlobalStudy-wide29922A=0.473T=0.526
The Genome Aggregation DatabaseOtherSub302A=0.440T=0.560
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.441T=0.559
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.493T=0.507
PMID Title Author Journal
24962325Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.Kapoor MDrug Alcohol Depend

P-Value

SNP ID p-value Traits Study
rs17343307.46E-07alcohol dependence (age at onset)24962325

eQTL of rs1734330 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 rs1734330 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 )
chr2129990903129991022E070-5966
chr2129991443129991904E070-5084
chr2129990903129991022E081-5966
chr2129991443129991904E081-5084
chr2129996773129997036E0810
chr2130010223130010353E08113235
chr2130010398130011293E08113410
chr2130038915130039052E08141927
chr2130039472130039687E08142484
chr2130039843130039996E08142855
chr2129996773129997036E0820
chr2130010223130010353E08213235
chr2130038591130038845E08241603
chr2130038915130039052E08241927
chr2130039472130039687E08242484
chr2130039843130039996E08242855