Disease: Hermanski-Pudlak Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281865082
rs281865082
Entrez Id: 3257
Gene Symbol: HPS1
HPS1
CUI: C0079504
Disease:
Hermanski-Pudlak Syndrome 		TG 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs281865082
rs281865082
Entrez Id: 3257
Gene Symbol: HPS1
HPS1
CUI: C0079504
Disease:
Hermanski-Pudlak Syndrome 		TG 0.700 CausalMutation CLINVAR High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. 16185271 2005
dbSNP: rs281865082
rs281865082
Entrez Id: 3257
Gene Symbol: HPS1
HPS1
CUI: C0079504
Disease:
Hermanski-Pudlak Syndrome 		TG 0.700 CausalMutation CLINVAR Molecular, ultrastructural and functional characterization of a Spanish family with Hermansky-Pudlak syndrome: role of insC974 in platelet function and clinical relevance. 14510955 2003
dbSNP: rs281865082
rs281865082
Entrez Id: 3257
Gene Symbol: HPS1
HPS1
CUI: C0079504
Disease:
Hermanski-Pudlak Syndrome 		TG 0.700 CausalMutation CLINVAR Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. 9497254 1998
dbSNP: rs281865082
rs281865082
Entrez Id: 3257
Gene Symbol: HPS1
HPS1
CUI: C0079504
Disease:
Hermanski-Pudlak Syndrome 		TG 0.700 CausalMutation CLINVAR Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. 8896559 1996
dbSNP: rs281865082
rs281865082
Entrez Id: 3257
Gene Symbol: HPS1
HPS1
CUI: C0079504
Disease:
Hermanski-Pudlak Syndrome 		T 0.700 CausalMutation CLINVAR