Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918150
rs121918150
PROC ; LOC105373608
0.800 GeneticVariation UNIPROT Molecular characterization of p.Asp77Gly and the novel p.Ala163Val and p.Ala163Glu mutations causing protein C deficiency. 25618265

2015
dbSNP: rs121918151
rs121918151
PROC ; LOC105373608
0.800 GeneticVariation UNIPROT Molecular characterization of p.Asp77Gly and the novel p.Ala163Val and p.Ala163Glu mutations causing protein C deficiency. 25618265

2015
dbSNP: rs121918150
rs121918150
PROC ; LOC105373608
0.800 GeneticVariation UNIPROT Homozygous type I protein C deficiency in two unrelated families exhibiting thrombophilia related to Ala136-->Pro or Arg286-->His mutations. 7878626

1994
dbSNP: rs121918150
rs121918150
PROC ; LOC105373608
0.800 GeneticVariation UNIPROT A novel homozygous missense mutation (Val 325-->Ala) in the protein C gene causing neonatal purpura fulminans. 7841324

1994
dbSNP: rs121918150
rs121918150
PROC ; LOC105373608
0.800 GeneticVariation UNIPROT A homozygous deletion/insertion mutation in the protein C (PROC) gene causing neonatal Purpura fulminans: prenatal diagnosis in an at-risk pregnancy. 7841323

1994
dbSNP: rs121918151
rs121918151
PROC ; LOC105373608
0.800 GeneticVariation UNIPROT A novel homozygous missense mutation (Val 325-->Ala) in the protein C gene causing neonatal purpura fulminans. 7841324

1994
dbSNP: rs121918151
rs121918151
PROC ; LOC105373608
0.800 GeneticVariation UNIPROT A homozygous deletion/insertion mutation in the protein C (PROC) gene causing neonatal Purpura fulminans: prenatal diagnosis in an at-risk pregnancy. 7841323

1994
dbSNP: rs121918151
rs121918151
PROC ; LOC105373608
0.800 GeneticVariation UNIPROT Homozygous type I protein C deficiency in two unrelated families exhibiting thrombophilia related to Ala136-->Pro or Arg286-->His mutations. 7878626

1994
dbSNP: rs121918150
rs121918150
PROC ; LOC105373608
0.800 GeneticVariation UNIPROT Homozygous protein C deficiency: identification of a novel missense mutation that causes impaired secretion of the mutant protein C. 1593215

1992
dbSNP: rs121918150
rs121918150
PROC ; LOC105373608
0.800 GeneticVariation UNIPROT A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis. 1511988

1992
dbSNP: rs121918150
rs121918150
PROC ; LOC105373608
0.800 GeneticVariation UNIPROT Protein C deficiency Hong Kong 1 and 2: hereditary protein C deficiency caused by two mutant alleles, a 5-nucleotide deletion and a missense mutation. 1611081

1992
dbSNP: rs121918151
rs121918151
PROC ; LOC105373608
0.800 GeneticVariation UNIPROT Protein C deficiency Hong Kong 1 and 2: hereditary protein C deficiency caused by two mutant alleles, a 5-nucleotide deletion and a missense mutation. 1611081

1992
dbSNP: rs121918151
rs121918151
PROC ; LOC105373608
0.800 GeneticVariation UNIPROT Homozygous protein C deficiency: identification of a novel missense mutation that causes impaired secretion of the mutant protein C. 1593215

1992
dbSNP: rs121918151
rs121918151
PROC ; LOC105373608
0.800 GeneticVariation UNIPROT A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis. 1511988

1992
dbSNP: rs121918150
rs121918150
PROC ; LOC105373608
A 0.800 CausalMutation CLINVAR

dbSNP: rs121918151
rs121918151
PROC ; LOC105373608
T 0.800 CausalMutation CLINVAR

dbSNP: rs121918143
rs121918143
PROC ; LOC105373608
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918144
rs121918144
PROC ; LOC105373608
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918146
rs121918146
PROC ; LOC105373608
A 0.700 CausalMutation CLINVAR

dbSNP: rs121918147
rs121918147
PROC ; LOC105373608
A 0.700 CausalMutation CLINVAR

dbSNP: rs121918148
rs121918148
PROC
C 0.700 CausalMutation CLINVAR

dbSNP: rs121918149
rs121918149
PROC
A 0.700 CausalMutation CLINVAR

dbSNP: rs121918156
rs121918156
PROC ; LOC105373608
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918157
rs121918157
PROC ; LOC105373608
G 0.700 CausalMutation CLINVAR

dbSNP: rs1254257945
rs1254257945
PROC ; MIR4783
0.700 GeneticVariation UNIPROT