rs349497

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0490 (14663/29910,GnomAD)
A==0495 (14429/29118,TOPMED)
A==0480 (2406/5008,1000G)
C=0448 (1726/3854,ALSPAC)
C=0447 (1657/3708,TWINSUK)
chr5:63258220 (GRCh38.p7) (5q12.1)
AD
GWASdb2
1   publication(s)
See rs on genome
13 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.63258220A>C
GRCh37.p13 chr 5NC_000005.9:g.62554047A>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.460C=0.540
1000GenomesAmericanSub694A=0.510C=0.490
1000GenomesEast AsianSub1008A=0.464C=0.536
1000GenomesEuropeSub1006A=0.522C=0.478
1000GenomesGlobalStudy-wide5008A=0.480C=0.520
1000GenomesSouth AsianSub978A=0.460C=0.540
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.552C=0.448
The Genome Aggregation DatabaseAfricanSub8708A=0.457C=0.543
The Genome Aggregation DatabaseAmericanSub838A=0.500C=0.500
The Genome Aggregation DatabaseEast AsianSub1606A=0.464C=0.536
The Genome Aggregation DatabaseEuropeSub18456A=0.537C=0.462
The Genome Aggregation DatabaseGlobalStudy-wide29910A=0.509C=0.490
The Genome Aggregation DatabaseOtherSub302A=0.610C=0.390
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.495C=0.504
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.553C=0.447
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
rs3494970.00035alcohol dependence20201924

eQTL of rs349497 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 rs349497 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 )
chr56253622062536324E069-17723
chr56253634362536420E069-17627
chr56253646562536519E069-17528
chr56252910562530128E070-23919
chr56252910562530128E071-23919
chr56253622062536324E072-17723
chr56253634362536420E072-17627
chr56253646562536519E072-17528
chr56253622062536324E074-17723
chr56253634362536420E074-17627
chr56253646562536519E074-17528
chr56253634362536420E082-17627
chr56253646562536519E082-17528