rs5951550

Homo sapiens
C>A
PTCHD1-AS : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0040 (831/20731,GnomAD)
A=0054 (202/3775,1000G)
chrX:22342067 (GRCh38.p7) (Xp22.11)
AD
GWASdb2
1   publication(s)
See rs on genome
23 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr XNC_000023.11:g.22342067C>A
GRCh37.p13 chr XNC_000023.10:g.22360184C>A

Gene: PTCHD1-AS, PTCHD1 antisense RNA (head to head)(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PTCHD1-AS transcriptNR_073010.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1003C=0.805A=0.195
1000GenomesAmericanSub524C=0.990A=0.010
1000GenomesEast AsianSub764C=1.000A=0.000
1000GenomesEuropeSub766C=1.000A=0.000
1000GenomesGlobalStudy-wide3775C=0.946A=0.054
1000GenomesSouth AsianSub718C=1.000A=0.000
The Genome Aggregation DatabaseAfricanSub5782C=0.858A=0.142
The Genome Aggregation DatabaseAmericanSub609C=0.990A=0.010
The Genome Aggregation DatabaseEast AsianSub1017C=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub13137C=0.999A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide20731C=0.959A=0.040
The Genome Aggregation DatabaseOtherSub186C=0.990A=0.010
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
rs59515500.00097alcohol dependence20201924

eQTL of rs5951550 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 rs5951550 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 )
chrX2231888522319110E068-41074
chrX2231916922319256E068-40928
chrX2233779622337857E070-22327
chrX2233799622338061E070-22123
chrX2233808322338224E070-21960
chrX2233834222339017E070-21167
chrX2233905822339159E070-21025
chrX2233930922339402E070-20782
chrX2231828022318755E081-41429
chrX2231888522319110E081-41074
chrX2231916922319256E081-40928
chrX2233169422332609E081-27575
chrX2233268222332822E081-27362
chrX2233283322333129E081-27055
chrX2233318222333316E081-26868
chrX2233834222339017E081-21167
chrX2233905822339159E081-21025
chrX2233930922339402E081-20782
chrX2234305122343095E081-17089
chrX2234328322343571E081-16613
chrX2236612722366181E0815943
chrX2237017122370374E0819987
chrX2237189522372023E08111711