rs4471563

Homo sapiens
T>C
LOC105370255 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0260 (7783/29880,GnomAD)
T==0284 (8272/29116,TOPMED)
T==0367 (1838/5008,1000G)
T==0236 (909/3854,ALSPAC)
T==0235 (873/3708,TWINSUK)
chr13:70772187 (GRCh38.p7) (13q21.33)
AD
GWASdb2
1   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.70772187T>C
GRCh37.p13 chr 13NC_000013.10:g.71346319T>C

Gene: LOC105370255, uncharacterized LOC105370255(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105370255 transcript variant X1XR_942058.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.335C=0.665
1000GenomesAmericanSub694T=0.260C=0.740
1000GenomesEast AsianSub1008T=0.539C=0.461
1000GenomesEuropeSub1006T=0.249C=0.751
1000GenomesGlobalStudy-wide5008T=0.367C=0.633
1000GenomesSouth AsianSub978T=0.430C=0.570
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.236C=0.764
The Genome Aggregation DatabaseAfricanSub8702T=0.290C=0.710
The Genome Aggregation DatabaseAmericanSub832T=0.280C=0.720
The Genome Aggregation DatabaseEast AsianSub1604T=0.543C=0.457
The Genome Aggregation DatabaseEuropeSub18440T=0.220C=0.779
The Genome Aggregation DatabaseGlobalStudy-wide29880T=0.260C=0.739
The Genome Aggregation DatabaseOtherSub302T=0.290C=0.710
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.284C=0.715
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.235C=0.765
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
rs44715630.000167alcohol dependence20201924

eQTL of rs4471563 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 rs4471563 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 )
chr137132109471321144E081-25175
chr137132133771321387E081-24932
chr137132140571321679E081-24640