PROS1, protein S, 5627

N. diseases: 283; N. variants: 57
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906675
rs387906675
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3281092
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Intracerebral mass bleeding in a term neonate: manifestation of hereditary protein S deficiency with a new mutation in the PROS1 gene. 20484936 2010
dbSNP: rs387906675
rs387906675
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3281092
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE 		C 0.800 CausalMutation CLINVAR
dbSNP: rs6122
rs6122
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3281092
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE 		A 0.700 GeneticVariation CLINVAR Genotype and laboratory and clinical phenotypes of protein s deficiency. 22261441 2012
dbSNP: rs6122
rs6122
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3281092
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE 		A 0.700 GeneticVariation CLINVAR Protein S inherited qualitative deficiency: novel mutations and phenotypic influence. 20880255 2010
dbSNP: rs6122
rs6122
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3281092
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE 		A 0.700 GeneticVariation CLINVAR Protein S Gla-domain mutations causing impaired Ca(2+)-induced phospholipid binding and severe functional protein S deficiency. 12351389 2002
dbSNP: rs6122
rs6122
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3281092
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE 		A 0.700 GeneticVariation CLINVAR Identification of 15 different candidate causal point mutations and three polymorphisms in 19 patients with protein S deficiency using a scanning method for the analysis of the protein S active gene. 7803790 1995
dbSNP: rs1241365457
rs1241365457
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3281092
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1559926604
rs1559926604
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3281092
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs759677822
rs759677822
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3281092
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE 		G 0.700 CausalMutation CLINVAR
dbSNP: rs863224838
rs863224838
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
CUI: C3281092
Disease:
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE 		CC 0.700 CausalMutation CLINVAR