rs1268546

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0466 (13944/29914,GnomAD)
T==0429 (12495/29118,TOPMED)
C=0491 (2457/5008,1000G)
T==0481 (1852/3854,ALSPAC)
T==0493 (1828/3708,TWINSUK)
chr2:129227609 (GRCh38.p7) (2q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.129227609T>C
GRCh37.p13 chr 2NC_000002.11:g.129985182T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.321C=0.679
1000GenomesAmericanSub694T=0.530C=0.470
1000GenomesEast AsianSub1008T=0.747C=0.253
1000GenomesEuropeSub1006T=0.458C=0.542
1000GenomesGlobalStudy-wide5008T=0.509C=0.491
1000GenomesSouth AsianSub978T=0.550C=0.450
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.481C=0.519
The Genome Aggregation DatabaseAfricanSub8706T=0.369C=0.631
The Genome Aggregation DatabaseAmericanSub834T=0.540C=0.460
The Genome Aggregation DatabaseEast AsianSub1616T=0.802C=0.198
The Genome Aggregation DatabaseEuropeSub18458T=0.480C=0.519
The Genome Aggregation DatabaseGlobalStudy-wide29914T=0.466C=0.533
The Genome Aggregation DatabaseOtherSub300T=0.410C=0.590
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.429C=0.570
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.493C=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
rs12685469.24E-07alcohol dependence (age at onset)24962325

eQTL of rs1268546 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 rs1268546 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 )
chr2129990903129991022E0705721
chr2129991443129991904E0706261
chr2129990903129991022E0815721
chr2129991443129991904E0816261
chr2129996773129997036E08111591
chr2130010223130010353E08125041
chr2130010398130011293E08125216
chr2129996773129997036E08211591
chr2130010223130010353E08225041