Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs146922325
rs146922325
Entrez Id: 5624;105373608
Gene Symbol: PROC;LOC105373608
PROC;LOC105373608
CUI: C2674321
Disease:
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		T 0.700 CausalMutation CLINVAR Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population. 24162787 2014
dbSNP: rs146922325
rs146922325
Entrez Id: 5624;105373608
Gene Symbol: PROC;LOC105373608
PROC;LOC105373608
CUI: C2674321
Disease:
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		T 0.700 CausalMutation CLINVAR Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population. 22545135 2012
dbSNP: rs146922325
rs146922325
Entrez Id: 5624;105373608
Gene Symbol: PROC;LOC105373608
PROC;LOC105373608
CUI: C2674321
Disease:
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		T 0.700 CausalMutation CLINVAR Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH. 7482420 1995