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