rs999700

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0350 (7239/20656,GnomAD)
C=0337 (1274/3775,1000G)
C=0252 (933/3708,TWINSUK)
C=0255 (738/2889,ALSPAC)
chrX:11699179 (GRCh38.p7) (Xp22.2)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
8 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr XNC_000023.11:g.11699179T>C
GRCh37.p13 chr XNC_000023.10:g.11717299T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1003T=0.301C=0.699
1000GenomesAmericanSub524T=0.770C=0.230
1000GenomesEast AsianSub764T=0.780C=0.220
1000GenomesEuropeSub766T=0.750C=0.250
1000GenomesGlobalStudy-wide3775T=0.663C=0.337
1000GenomesSouth AsianSub718T=0.880C=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide2889T=0.745C=0.255
The Genome Aggregation DatabaseAfricanSub5761T=0.338C=0.662
The Genome Aggregation DatabaseAmericanSub620T=0.810C=0.190
The Genome Aggregation DatabaseEast AsianSub1015T=0.813C=0.187
The Genome Aggregation DatabaseEuropeSub13076T=0.763C=0.236
The Genome Aggregation DatabaseGlobalStudy-wide20656T=0.649C=0.350
The Genome Aggregation DatabaseOtherSub184T=0.830C=0.170
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.748C=0.252
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
rs9997000.000544alcohol dependence20201924

eQTL of rs999700 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 rs999700 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 )
chrX1168520411685362E070-31937
chrX1169635911696542E081-20757


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chrX1168230111684771E067-32528
chrX1168230111684771E068-32528
chrX1168230111684771E069-32528
chrX1168230111684771E070-32528
chrX1168230111684771E071-32528
chrX1168230111684771E072-32528
chrX1168230111684771E073-32528
chrX1168230111684771E082-32528