rs493863

Homo sapiens
A>G
LOC105370263 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0192 (5757/29876,GnomAD)
A==0163 (4765/29118,TOPMED)
A==0162 (809/5008,1000G)
A==0210 (809/3854,ALSPAC)
A==0203 (751/3708,TWINSUK)
chr13:76489395 (GRCh38.p7) (13q22.2)
AD
GWASdb2
1   publication(s)
See rs on genome
16 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.76489395A>G
GRCh37.p13 chr 13NC_000013.10:g.77063531A>G

Gene: LOC105370263, uncharacterized LOC105370263(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105370263 transcriptXR_001749919.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.148G=0.852
1000GenomesAmericanSub694A=0.140G=0.860
1000GenomesEast AsianSub1008A=0.157G=0.843
1000GenomesEuropeSub1006A=0.188G=0.812
1000GenomesGlobalStudy-wide5008A=0.162G=0.838
1000GenomesSouth AsianSub978A=0.180G=0.820
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.210G=0.790
The Genome Aggregation DatabaseAfricanSub8710A=0.160G=0.840
The Genome Aggregation DatabaseAmericanSub836A=0.150G=0.850
The Genome Aggregation DatabaseEast AsianSub1594A=0.167G=0.833
The Genome Aggregation DatabaseEuropeSub18434A=0.213G=0.787
The Genome Aggregation DatabaseGlobalStudy-wide29876A=0.192G=0.807
The Genome Aggregation DatabaseOtherSub302A=0.160G=0.840
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.163G=0.836
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.203G=0.797
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
rs4938630.000296alcohol dependence20201924

eQTL of rs493863 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 rs493863 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 )
chr137703563377035707E070-27824
chr137703575677035906E070-27625
chr137703700777037124E070-26407
chr137703716077037257E070-26274
chr137703756377037772E070-25759
chr137703597077036494E071-27037
chr137701372877014243E081-49288
chr137701427977014329E081-49202
chr137701437577014429E081-49102
chr137702965377030049E081-33482
chr137703011677030550E081-32981
chr137707405177074810E08110520
chr137707514677075255E08111615
chr137701372877014243E082-49288
chr137707375177073946E08210220
chr137707638077076703E08212849