rs5991588

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0102 (2118/20753,GnomAD)
T=0153 (578/3775,1000G)
T=0102 (380/3708,TWINSUK)
T=0094 (273/2889,ALSPAC)
chrX:42803678 (GRCh38.p7) (Xp11.3)
AD
GWASdb2
1   publication(s)
See rs on genome
5 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr XNC_000023.11:g.42803678C>T
GRCh37.p13 chr XNC_000023.10:g.42662929C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1003C=0.879T=0.121
1000GenomesAmericanSub524C=0.940T=0.060
1000GenomesEast AsianSub764C=0.720T=0.280
1000GenomesEuropeSub766C=0.890T=0.110
1000GenomesGlobalStudy-wide3775C=0.847T=0.153
1000GenomesSouth AsianSub718C=0.830T=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide2889C=0.906T=0.094
The Genome Aggregation DatabaseAfricanSub5884C=0.897T=0.103
The Genome Aggregation DatabaseAmericanSub608C=0.940T=0.060
The Genome Aggregation DatabaseEast AsianSub992C=0.720T=0.280
The Genome Aggregation DatabaseEuropeSub13079C=0.909T=0.090
The Genome Aggregation DatabaseGlobalStudy-wide20753C=0.897T=0.102
The Genome Aggregation DatabaseOtherSub190C=0.910T=0.090
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.898T=0.102
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
rs59915880.000581alcohol dependence20201924

eQTL of rs5991588 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 rs5991588 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 )
chrX4269651342696700E06733584
chrX4269673942696795E06733810
chrX4269708342697267E06734154
chrX4269651342696700E07133584
chrX4269673942696795E07133810