JPH1, junctophilin 1, 56704

N. diseases: 29; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2977046
rs2977046
Entrez Id: 56704
Gene Symbol: JPH1
JPH1
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs13257503
rs13257503
Entrez Id: 56704
Gene Symbol: JPH1
JPH1
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs13257503
rs13257503
Entrez Id: 56704
Gene Symbol: JPH1
JPH1
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs6983232
rs6983232
Entrez Id: 56704
Gene Symbol: JPH1
JPH1
CUI: C0027404
Disease:
Narcolepsy 		0.700 GeneticVariation GWASDB Genome-wide association database developed in the Japanese Integrated Database Project. 19629137 2009
dbSNP: rs201314759
rs201314759
Entrez Id: 56704
Gene Symbol: JPH1
JPH1
CUI: C4225540
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, MODIFIER OF (1 family) 		G 0.700 SusceptibilityMutation CLINVAR