rs10511730

Homo sapiens
C>G / C>T
LOC101929563 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0065 (1969/29962,GnomAD)
T=0056 (1640/29118,TOPMED)
T=0074 (372/5008,1000G)
T=0092 (354/3854,ALSPAC)
T=0090 (332/3708,TWINSUK)
chr9:23563774 (GRCh38.p7) (9p21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
3 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.23563774C>G
GRCh38.p7 chr 9NC_000009.12:g.23563774C>T
GRCh37.p13 chr 9NC_000009.11:g.23563772C>G
GRCh37.p13 chr 9NC_000009.11:g.23563772C>T

Gene: LOC101929563, uncharacterized LOC101929563(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC101929563 transcriptNR_121602.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.996T=0.004
1000GenomesAmericanSub694C=0.950T=0.050
1000GenomesEast AsianSub1008C=0.952T=0.048
1000GenomesEuropeSub1006C=0.903T=0.097
1000GenomesGlobalStudy-wide5008C=0.926T=0.074
1000GenomesSouth AsianSub978C=0.810T=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.908T=0.092
The Genome Aggregation DatabaseAfricanSub8722C=0.983T=0.017
The Genome Aggregation DatabaseAmericanSub838C=0.950T=0.05,
The Genome Aggregation DatabaseEast AsianSub1614C=0.955T=0.045
The Genome Aggregation DatabaseEuropeSub18486C=0.909T=0.090
The Genome Aggregation DatabaseGlobalStudy-wide29962C=0.934T=0.065
The Genome Aggregation DatabaseOtherSub302C=0.900T=0.10,
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.943T=0.056
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.910T=0.090
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
rs105117300.00013alcohol dependence(early age of onset)20201924
rs105117300.00059alcohol dependence20201924

eQTL of rs10511730 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 rs10511730 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 )
chr962719626272713E068-19894
chr963020576302132E0689450
chr963021446302291E0689537