Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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