rs7967481

Homo sapiens
G>A / G>T
PPM1H : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0277 (8307/29932,GnomAD)
T=0274 (7983/29118,TOPMED)
T=0297 (1487/5008,1000G)
T=0202 (778/3854,ALSPAC)
T=0198 (734/3708,TWINSUK)
chr12:62911903 (GRCh38.p7) (12q14.2)
AD
GWASdb2
1   publication(s)
See rs on genome
11 Enhancers around
1 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.62911903G>A
GRCh38.p7 chr 12NC_000012.12:g.62911903G>T
GRCh37.p13 chr 12NC_000012.11:g.63305683G>A
GRCh37.p13 chr 12NC_000012.11:g.63305683G>T

Gene: PPM1H, protein phosphatase, Mg2+/Mn2+ dependent 1H(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PPM1H transcriptNM_020700.1:c.N/AIntron Variant
PPM1H transcript variant X1XM_011538578.2:c.N/AIntron Variant
PPM1H transcript variant X2XM_017019676.1:c.N/AIntron Variant
PPM1H transcript variant X3XM_011538579.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.605T=0.395
1000GenomesAmericanSub694G=0.770T=0.230
1000GenomesEast AsianSub1008G=0.649T=0.351
1000GenomesEuropeSub1006G=0.750T=0.250
1000GenomesGlobalStudy-wide5008G=0.703T=0.297
1000GenomesSouth AsianSub978G=0.790T=0.210
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.798T=0.202
The Genome Aggregation DatabaseAfricanSub8708G=0.619A=0.000
The Genome Aggregation DatabaseAmericanSub838G=0.820A=0.00,
The Genome Aggregation DatabaseEast AsianSub1608G=0.651A=0.000
The Genome Aggregation DatabaseEuropeSub18476G=0.772A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29932G=0.722A=0.000
The Genome Aggregation DatabaseOtherSub302G=0.760A=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.725T=0.274
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.802T=0.198
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
rs79674810.000242alcohol dependence21314694

eQTL of rs7967481 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 rs7967481 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 )
chr124303510243035238E070-39442
chr124310105143101475E07026371
chr124310158243101737E07026902
chr124310180943101911E07227129
chr124310194943102035E07227269
chr124310105143101475E07326371
chr124310158243101737E07326902
chr124310194943102035E08127269
chr124310206643102253E08127386
chr124310228343102428E08127603
chr124310247743102535E08127797




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr124308586343086296E07411183