PROS1, protein S, 5627

N. diseases: 283; N. variants: 57
Disease: Protein S Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1328295730
rs1328295730
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C0242666
Disease:
Protein S Deficiency 		0.010 GeneticVariation BEFREE Gene analysis of six cases of congenital protein S deficiency and functional analysis of protein S mutations (A139V, C449F, R451Q, C475F, A525V and D599TfsTer13). 28088608 2017
dbSNP: rs387906674
rs387906674
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C0242666
Disease:
Protein S Deficiency 		0.010 GeneticVariation BEFREE PROS1 R355C mutation cosegregated with PSD type III and premature white matter infarctions in the index family. 21172841 2010
dbSNP: rs6123
rs6123
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C0242666
Disease:
Protein S Deficiency 		0.010 GeneticVariation BEFREE Association of protein S p.Pro667Pro dimorphism with plasma protein S levels in normal individuals and patients with inherited protein S deficiency. 17157360 2007
dbSNP: rs753950548
rs753950548
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C0242666
Disease:
Protein S Deficiency 		0.010 GeneticVariation BEFREE A naturally occurring Thr103Asn (T103N) mutation in the first EGF-like domain of protein S has been associated with functional (type II) protein S deficiency. 11019964 2000
dbSNP: rs963668412
rs963668412
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C0242666
Disease:
Protein S Deficiency 		0.010 GeneticVariation BEFREE Both mutations (R49H and R70S) have been found in thrombosis patients diagnosed as having type I protein S deficiency. 10613646 1999