rs8113487

Homo sapiens
G>A / G>C
ZNF284 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0178 (5340/29914,GnomAD)
G==0198 (5785/29118,TOPMED)
G==0239 (1198/5008,1000G)
G==0115 (442/3854,ALSPAC)
G==0113 (418/3708,TWINSUK)
chr19:44087401 (GRCh38.p7) (19q13.31)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.44087401G>A
GRCh38.p7 chr 19NC_000019.10:g.44087401G>C
GRCh37.p13 chr 19NC_000019.9:g.44591554G>A
GRCh37.p13 chr 19NC_000019.9:g.44591554G>C

Gene: ZNF284, zinc finger protein 284(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ZNF284 transcriptNM_001037813.2:c.N/A3 Prime UTR Variant
ZNF284 transcript variant X1XM_011526908.2:c.N/A3 Prime UTR Variant
ZNF284 transcript variant X2XM_011526907.2:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.255C=0.745
1000GenomesAmericanSub694G=0.260C=0.740
1000GenomesEast AsianSub1008G=0.381C=0.619
1000GenomesEuropeSub1006G=0.114C=0.886
1000GenomesGlobalStudy-wide5008G=0.239C=0.761
1000GenomesSouth AsianSub978G=0.190C=0.810
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.115C=0.885
The Genome Aggregation DatabaseAfricanSub8694G=0.247C=0.753
The Genome Aggregation DatabaseAmericanSub832G=0.250C=0.75,
The Genome Aggregation DatabaseEast AsianSub1610G=0.382C=0.618
The Genome Aggregation DatabaseEuropeSub18476G=0.125C=0.874
The Genome Aggregation DatabaseGlobalStudy-wide29914G=0.178C=0.821
The Genome Aggregation DatabaseOtherSub302G=0.180C=0.82,
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.198C=0.801
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.113C=0.887
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs81134876.47E-05alcohol consumption23743675

eQTL of rs8113487 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 rs8113487 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.