rs1530485

Homo sapiens
C>T
LOC105370236 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0188 (5478/29108,GnomAD)
T=0210 (1051/5008,1000G)
T=0022 (85/3854,ALSPAC)
T=0024 (88/3708,TWINSUK)
chr13:63658208 (GRCh38.p7) (13q21.31)
AD
GWASdb2
2   publication(s)
See rs on genome
3 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.63658208C>T
GRCh37.p13 chr 13NC_000013.10:g.64232341C>T

Gene: LOC105370236, uncharacterized LOC105370236(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105370236 transcript variant X3XR_942019.1:n.N/AIntron Variant
LOC105370236 transcript variant X2XR_942020.1:n.N/AIntron Variant
LOC105370236 transcript variant X1XR_942018.1:n.N/AGenic Downstream Transcript Variant
LOC105370236 transcript variant X4XR_942021.2:n.N/AGenic Downstream Transcript Variant
LOC105370236 transcript variant X5XR_942022.1:n.N/AGenic Downstream Transcript Variant
LOC105370236 transcript variant X6XR_942023.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.385T=0.615
1000GenomesAmericanSub694C=0.850T=0.150
1000GenomesEast AsianSub1008C=0.955T=0.045
1000GenomesEuropeSub1006C=0.972T=0.028
1000GenomesGlobalStudy-wide5008C=0.790T=0.210
1000GenomesSouth AsianSub978C=0.940T=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.978T=0.022
The Genome Aggregation DatabaseAfricanSub8644C=0.460T=0.540
The Genome Aggregation DatabaseAmericanSub764C=0.840T=0.160
The Genome Aggregation DatabaseEast AsianSub1582C=0.968T=0.032
The Genome Aggregation DatabaseEuropeSub17816C=0.965T=0.035
The Genome Aggregation DatabaseGlobalStudy-wide29108C=0.811T=0.188
The Genome Aggregation DatabaseOtherSub302C=0.960T=0.040
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.976T=0.024
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
20202923A genome-wide association study of alcohol dependence.Bierut LJProc Natl Acad Sci U S A

P-Value

SNP ID p-value Traits Study
rs15304850.00000352alcohol dependence20202923
rs15304850.000578alcohol dependence20201924

eQTL of rs1530485 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 rs1530485 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 )
chr136422370264224213E074-8128
chr136427918264279240E08146841
chr136427939364279545E08147052