rs7721685

Homo sapiens
A>G
LOC105374660 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0413 (12383/29926,GnomAD)
A==0476 (13875/29118,TOPMED)
G=0490 (2452/5008,1000G)
A==0311 (1197/3854,ALSPAC)
A==0324 (1203/3708,TWINSUK)
chr5:13399522 (GRCh38.p7) (5p15.2)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.13399522A>G
GRCh37.p13 chr 5NC_000005.9:g.13399634A>G

Gene: LOC105374660, uncharacterized LOC105374660(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105374660 transcript variant X1XR_001742605.1:n.N/AIntron Variant
LOC105374660 transcript variant X2XR_001742606.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.656G=0.344
1000GenomesAmericanSub694A=0.460G=0.540
1000GenomesEast AsianSub1008A=0.548G=0.452
1000GenomesEuropeSub1006A=0.336G=0.664
1000GenomesGlobalStudy-wide5008A=0.510G=0.490
1000GenomesSouth AsianSub978A=0.490G=0.510
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.311G=0.689
The Genome Aggregation DatabaseAfricanSub8718A=0.626G=0.374
The Genome Aggregation DatabaseAmericanSub838A=0.460G=0.540
The Genome Aggregation DatabaseEast AsianSub1618A=0.489G=0.511
The Genome Aggregation DatabaseEuropeSub18450A=0.307G=0.692
The Genome Aggregation DatabaseGlobalStudy-wide29926A=0.413G=0.586
The Genome Aggregation DatabaseOtherSub302A=0.240G=0.760
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.476G=0.523
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.324G=0.676
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
rs77216850.000066alcohol dependence20201924
rs77216850.0000664alcoholismpha002893
rs77216850.00015alcohol dependence(early age of onset)20201924

eQTL of rs7721685 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 rs7721685 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 )
chr51335855413358672E082-40962
chr51335945213359758E082-39876