rs1270481

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0449 (13075/29118,TOPMED)
C=0467 (13265/28394,GnomAD)
C=0358 (1795/5008,1000G)
C=0495 (1909/3854,ALSPAC)
C=0486 (1802/3708,TWINSUK)
chr2:129226091 (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.129226091T>C
GRCh37.p13 chr 2NC_000002.11:g.129983664T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.581C=0.419
1000GenomesAmericanSub694T=0.680C=0.320
1000GenomesEast AsianSub1008T=0.835C=0.165
1000GenomesEuropeSub1006T=0.488C=0.512
1000GenomesGlobalStudy-wide5008T=0.642C=0.358
1000GenomesSouth AsianSub978T=0.660C=0.340
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.505C=0.495
The Genome Aggregation DatabaseAfricanSub8358T=0.578C=0.422
The Genome Aggregation DatabaseAmericanSub734T=0.640C=0.360
The Genome Aggregation DatabaseEast AsianSub1538T=0.858C=0.142
The Genome Aggregation DatabaseEuropeSub17464T=0.480C=0.519
The Genome Aggregation DatabaseGlobalStudy-wide28394T=0.532C=0.467
The Genome Aggregation DatabaseOtherSub300T=0.410C=0.590
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.551C=0.449
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.514C=0.486
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
rs12704815.12E-06alcohol dependence (age at onset)24962325

eQTL of rs1270481 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 rs1270481 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 )
chr2129990903129991022E0707239
chr2129991443129991904E0707779
chr2129990903129991022E0817239
chr2129991443129991904E0817779
chr2129996773129997036E08113109
chr2130010223130010353E08126559
chr2130010398130011293E08126734
chr2129996773129997036E08213109
chr2130010223130010353E08226559