SSH1, slingshot protein phosphatase 1, 54434

N. diseases: 16; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs987044
rs987044
Entrez Id: 54434
Gene Symbol: SSH1
SSH1
CUI: C0200665
Disease:
Platelet mean volume determination (procedure) 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs773314451
rs773314451
Entrez Id: 54434
Gene Symbol: SSH1
SSH1
CUI: C0265970
Disease:
Porokeratosis, Disseminated Superficial Actinic 		0.020 GeneticVariation BEFREE A missense mutation (p.Ser63Asn) in SSH1 and a variation (dbSNP3759383: G>A) in the promoter region of ARPC3 were closely linked with DSAP in the pedigree. 15928614 2005
dbSNP: rs773314451
rs773314451
Entrez Id: 54434
Gene Symbol: SSH1
SSH1
CUI: C0265970
Disease:
Porokeratosis, Disseminated Superficial Actinic 		0.020 GeneticVariation BEFREE Upon screening 30 candidate genes, we identified a missense mutation, p.Ser63Asn in SSH1 in one family, a frameshift mutation, p.Ser19CysfsX24 in an alternative variant (isoform f) of SSH1 in another family, and a frameshift mutation, p.Pro27ProfsX54 in the same alternative variant in one non-familial case with DSAP. 15459975 2004