rs12231753

Homo sapiens
C>T
PLEKHA8P1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0176 (5285/29946,GnomAD)
T=0215 (6270/29118,TOPMED)
T=0264 (1321/5008,1000G)
T=0070 (270/3854,ALSPAC)
T=0073 (271/3708,TWINSUK)
chr12:45203757 (GRCh38.p7) (12q12)
AD
GWASdb2
1   publication(s)
See rs on genome
31 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.45203757C>T
GRCh37.p13 chr 12NC_000012.11:g.45597540C>T

Gene: PLEKHA8P1, pleckstrin homology domain containing A8 pseudogene 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PLEKHA8P1 transcriptNR_037144.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.570T=0.430
1000GenomesAmericanSub694C=0.860T=0.140
1000GenomesEast AsianSub1008C=0.629T=0.371
1000GenomesEuropeSub1006C=0.934T=0.066
1000GenomesGlobalStudy-wide5008C=0.736T=0.264
1000GenomesSouth AsianSub978C=0.780T=0.220
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.930T=0.070
The Genome Aggregation DatabaseAfricanSub8714C=0.625T=0.375
The Genome Aggregation DatabaseAmericanSub838C=0.870T=0.130
The Genome Aggregation DatabaseEast AsianSub1616C=0.637T=0.363
The Genome Aggregation DatabaseEuropeSub18476C=0.930T=0.069
The Genome Aggregation DatabaseGlobalStudy-wide29946C=0.823T=0.176
The Genome Aggregation DatabaseOtherSub302C=0.910T=0.090
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.784T=0.215
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.927T=0.073
PMID Title Author Journal
19581569Genome-wide association study of alcohol dependence.Treutlein JArch Gen Psychiatry

P-Value

SNP ID p-value Traits Study
rs122317536.96E-05alcohol dependence19581569

eQTL of rs12231753 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 rs12231753 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 )
chr124562784245629879E06730302
chr124561303945613097E06815499
chr124561314045613282E06815600
chr124561332345613527E06815783
chr124561354045613906E06816000
chr124561391145614629E06816371
chr124562117545621790E06823635
chr124562537645627217E06827836
chr124562784245629879E06830302
chr124561780645618044E06920266
chr124562784245629879E06930302
chr124561221145612285E07014671
chr124561236745612435E07014827
chr124562117545621790E07023635
chr124562188645622061E07024346
chr124562228245622342E07024742
chr124561221145612285E07114671
chr124561236745612435E07114827
chr124561391145614629E07116371
chr124562784245629879E07130302
chr124561221145612285E07214671
chr124561236745612435E07214827
chr124562784245629879E07230302
chr124561221145612285E07314671
chr124561236745612435E07314827
chr124562537645627217E07327836
chr124562784245629879E07330302
chr124561354045613906E07416000
chr124562537645627217E07427836
chr124562721845627433E07429678
chr124564281045642850E07445270








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr124560843245611905E06710892
chr124560843245611905E06810892
chr124560843245611905E06910892
chr124560843245611905E07010892
chr124560843245611905E07110892
chr124560843245611905E07210892
chr124560843245611905E07310892
chr124560843245611905E07410892
chr124560843245611905E08110892
chr124560843245611905E08210892