rs7912686

Homo sapiens
T>C
PDLIM1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0180 (5411/29952,GnomAD)
C=0182 (5307/29118,TOPMED)
C=0162 (812/5008,1000G)
C=0208 (803/3854,ALSPAC)
C=0222 (825/3708,TWINSUK)
chr10:95266701 (GRCh38.p7) (10q23.33)
AD
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around
14 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.95266701T>C
GRCh37.p13 chr 10NC_000010.10:g.97026458T>C

Gene: PDLIM1, PDZ and LIM domain 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PDLIM1 transcriptNM_020992.3:c.N/AIntron Variant
PDLIM1 transcript variant X1XM_011540330.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.838C=0.162
1000GenomesAmericanSub694T=0.840C=0.160
1000GenomesEast AsianSub1008T=0.973C=0.027
1000GenomesEuropeSub1006T=0.766C=0.234
1000GenomesGlobalStudy-wide5008T=0.838C=0.162
1000GenomesSouth AsianSub978T=0.770C=0.230
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.792C=0.208
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.817C=0.182
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.778C=0.222
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs79126860.000399alcohol dependence21314694

eQTL of rs7912686 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 rs7912686 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 )
chr109700616697008330E071-18128
chr109706301297063095E07236554
chr109706313297063372E07236674
chr109706339797063698E07236939


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr109698921696991057E067-35401
chr109699114296991302E067-35156
chr109704874997051414E06722291
chr109698921696991057E068-35401
chr109704874997051414E06822291
chr109698921696991057E069-35401
chr109698921696991057E070-35401
chr109704874997051414E07122291
chr109698921696991057E072-35401
chr109698921696991057E073-35401
chr109704874997051414E07322291
chr109698921696991057E081-35401
chr109698921696991057E082-35401
chr109704874997051414E08222291