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: rs121908385
rs121908385
Entrez Id: 3257
Gene Symbol: HPS1
HPS1
CUI: C0079504
Disease:
Hermanski-Pudlak Syndrome 		A 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs121908385
rs121908385
Entrez Id: 3257
Gene Symbol: HPS1
HPS1
CUI: C0079504
Disease:
Hermanski-Pudlak Syndrome 		A 0.700 CausalMutation CLINVAR