Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs777417437
rs777417437
Entrez Id: 5554;11272;100533464
Gene Symbol: PRH1;PRR4;PRH1-PRR4
PRH1;PRR4;PRH1-PRR4
CUI: C0085409
Disease:
Polyendocrinopathies, Autoimmune 		0.010 GeneticVariation BEFREE The presence of factor V Leiden G506A (FVL) mutation was significantly higher in APS patients with thrombosis compared to healthy controls (11.2% versus 4.9%, P = 0.0043). 19504051 2010
dbSNP: rs939679843
rs939679843
Entrez Id: 5554;11272;100533464
Gene Symbol: PRH1;PRR4;PRH1-PRR4
PRH1;PRR4;PRH1-PRR4
CUI: C2930896
Disease:
Congenital thrombotic disease, due to Protein C deficiency 		0.010 GeneticVariation BEFREE We have identified one frameshift (3363 ins C) and two missense mutations (R178Q and T298M) in 7 French Canadian families with type I PROC deficiency. 9798967 1998
dbSNP: rs530641616
rs530641616
Entrez Id: 5554;11272;100533464
Gene Symbol: PRH1;PRR4;PRH1-PRR4
PRH1;PRR4;PRH1-PRR4
CUI: C1282975
Disease:
von Willebrand Disease, Type 2N 		0.010 GeneticVariation BEFREE The common von Willebrand disease type 2N mutation (R91Q) was excluded as a modifying factor in these groups of patients. 8695835 1996
dbSNP: rs568202260
rs568202260
Entrez Id: 5554;11272;100533464
Gene Symbol: PRH1;PRR4;PRH1-PRR4
PRH1;PRR4;PRH1-PRR4
CUI: C1282975
Disease:
von Willebrand Disease, Type 2N 		0.010 GeneticVariation BEFREE The common von Willebrand disease type 2N mutation (R91Q) was excluded as a modifying factor in these groups of patients. 8695835 1996
dbSNP: rs751205634
rs751205634
Entrez Id: 5554;5555;11272;100533464
Gene Symbol: PRH1;PRH2;PRR4;PRH1-PRR4
PRH1;PRH2;PRR4;PRH1-PRR4
CUI: C1282975
Disease:
von Willebrand Disease, Type 2N 		0.010 GeneticVariation BEFREE The common von Willebrand disease type 2N mutation (R91Q) was excluded as a modifying factor in these groups of patients. 8695835 1996