rs4246224

Homo sapiens
G>A
LOC105369698 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0097 (2928/29932,GnomAD)
A=0108 (3157/29118,TOPMED)
A=0131 (657/5008,1000G)
A=0157 (607/3854,ALSPAC)
A=0146 (542/3708,TWINSUK)
chr12:24631205 (GRCh38.p7) (12p12.1)
AD
GWASdb2
1   publication(s)
See rs on genome
10 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.24631205G>A
GRCh37.p13 chr 12NC_000012.11:g.24784139G>A

Gene: LOC105369698, uncharacterized LOC105369698(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105369698 transcriptXR_001749046.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.991A=0.009
1000GenomesAmericanSub694G=0.840A=0.160
1000GenomesEast AsianSub1008G=0.865A=0.135
1000GenomesEuropeSub1006G=0.845A=0.155
1000GenomesGlobalStudy-wide5008G=0.869A=0.131
1000GenomesSouth AsianSub978G=0.750A=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.843A=0.157
The Genome Aggregation DatabaseAfricanSub8728G=0.971A=0.029
The Genome Aggregation DatabaseAmericanSub836G=0.850A=0.150
The Genome Aggregation DatabaseEast AsianSub1606G=0.885A=0.115
The Genome Aggregation DatabaseEuropeSub18460G=0.874A=0.125
The Genome Aggregation DatabaseGlobalStudy-wide29932G=0.902A=0.097
The Genome Aggregation DatabaseOtherSub302G=0.860A=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.891A=0.108
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.854A=0.146
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
rs42462240.00066alcohol dependence20201924

eQTL of rs4246224 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 rs4246224 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 )
chr122474410024744384E068-39755
chr122481453124815068E06830392
chr122474845724748529E070-35610
chr122474868824748860E070-35279
chr122483198424832491E07047845
chr122483198424832491E08147845
chr122483260924832695E08148470
chr122483384324833903E08149704
chr122483198424832491E08247845
chr122483260924832695E08248470