Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs116107386
rs116107386
Entrez Id: 130340
Gene Symbol: AP1S3
AP1S3
CUI: C4015235
Disease:
PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO 		C 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs116107386
rs116107386
Entrez Id: 130340
Gene Symbol: AP1S3
AP1S3
CUI: C4015235
Disease:
PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO 		0.800 GeneticVariation UNIPROT
dbSNP: rs6755248
rs6755248
Entrez Id: 130340
Gene Symbol: AP1S3
AP1S3
CUI: C0004096
Disease:
Asthma 		G 0.700 GeneticVariation GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
dbSNP: rs6755248
rs6755248
Entrez Id: 130340
Gene Symbol: AP1S3
AP1S3
CUI: C0264408
Disease:
Childhood asthma 		0.700 GeneticVariation GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
dbSNP: rs138292988
rs138292988
Entrez Id: 130340
Gene Symbol: AP1S3
AP1S3
CUI: C4015235
Disease:
PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO 		0.700 GeneticVariation UNIPROT
dbSNP: rs138292988
rs138292988
Entrez Id: 130340
Gene Symbol: AP1S3
AP1S3
CUI: C0037274
Disease:
Dermatologic disorders 		0.010 GeneticVariation BEFREE Here, we report two founder mutations (c.11T>G [p.Phe4Cys] and c.97C>T [p.Arg33Trp]) in AP1S3, the gene encoding AP-1 complex subunit σ1C, in 15 unrelated individuals with a severe autoinflammatory skin disorder known as pustular psoriasis. 24791904 2014