CP, ceruloplasmin, 1356

N. diseases: 283; N. variants: 64
Disease: HERMANSKY-PUDLAK SYNDROME 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1277509410
rs1277509410
Entrez Id: 1356;84343
Gene Symbol: CP;HPS3
CP;HPS3
CUI: C3888001
Disease:
HERMANSKY-PUDLAK SYNDROME 3 		T 0.700 GeneticVariation CLINVAR