rs4975962

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0433 (12815/29550,GnomAD)
C==0486 (14170/29110,TOPMED)
C==0457 (2287/5008,1000G)
C==0367 (1413/3854,ALSPAC)
C==0366 (1358/3708,TWINSUK)
chr5:46284752 (GRCh38.p7) (5p11)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.46284752C>T
GRCh37.p13 chr 5NC_000005.9:g.46284854C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.677T=0.323
1000GenomesAmericanSub694C=0.330T=0.670
1000GenomesEast AsianSub1008C=0.471T=0.529
1000GenomesEuropeSub1006C=0.333T=0.667
1000GenomesGlobalStudy-wide5008C=0.457T=0.543
1000GenomesSouth AsianSub978C=0.360T=0.640
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.367T=0.633
The Genome Aggregation DatabaseAfricanSub8688C=0.653T=0.347
The Genome Aggregation DatabaseAmericanSub828C=0.330T=0.670
The Genome Aggregation DatabaseEast AsianSub1472C=0.518T=0.482
The Genome Aggregation DatabaseEuropeSub18264C=0.329T=0.670
The Genome Aggregation DatabaseGlobalStudy-wide29550C=0.433T=0.566
The Genome Aggregation DatabaseOtherSub298C=0.320T=0.680
Trans-Omics for Precision MedicineGlobalStudy-wide29110C=0.486T=0.513
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.366T=0.634
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs49759620.000979alcohol dependence20201924

eQTL of rs4975962 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 rs4975962 in Fetal Brain

Probe ID Position Gene beta p-value
cg15950743chr5:49708521EMB-0.08361486099673163.2068e-29

Genomic View

Chromatin Interaction

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