rs6993814

Homo sapiens
T>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0127 (3806/29936,GnomAD)
G=0140 (4096/29118,TOPMED)
G=0175 (876/5008,1000G)
G=0060 (231/3854,ALSPAC)
G=0048 (179/3708,TWINSUK)
chr8:100798504 (GRCh38.p7) (8q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
21 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.100798504T>G
GRCh37.p13 chr 8NC_000008.10:g.101810732T>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.756G=0.244
1000GenomesAmericanSub694T=0.800G=0.200
1000GenomesEast AsianSub1008T=0.711G=0.289
1000GenomesEuropeSub1006T=0.948G=0.052
1000GenomesGlobalStudy-wide5008T=0.825G=0.175
1000GenomesSouth AsianSub978T=0.930G=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.940G=0.060
The Genome Aggregation DatabaseAfricanSub8692T=0.763G=0.237
The Genome Aggregation DatabaseAmericanSub838T=0.800G=0.200
The Genome Aggregation DatabaseEast AsianSub1610T=0.687G=0.313
The Genome Aggregation DatabaseEuropeSub18494T=0.942G=0.057
The Genome Aggregation DatabaseGlobalStudy-wide29936T=0.872G=0.127
The Genome Aggregation DatabaseOtherSub302T=0.950G=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.859G=0.140
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.952G=0.048
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
rs69938144.01E-05alcohol consumption23743675

eQTL of rs6993814 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 rs6993814 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 )
chr8101773554101775046E068-35686
chr8101847470101848214E06836738
chr8101762717101763214E071-47518
chr8101764400101764498E071-46234
chr8101764560101764751E071-45981
chr8101764770101764823E071-45909
chr8101803597101803661E072-7071
chr8101803758101804338E074-6394
chr8101804391101804510E074-6222
chr8101847470101848214E07436738
chr8101848259101848339E07437527
chr8101859230101859295E07448498
chr8101775773101775823E081-34909
chr8101775832101775882E081-34850
chr8101775951101776079E081-34653
chr8101803597101803661E081-7071
chr8101803758101804338E081-6394
chr8101804391101804510E081-6222
chr8101851627101851825E08140895
chr8101851845101851917E08141113
chr8101775334101775644E082-35088