Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918552
rs121918552
0.810 GeneticVariation BEFREE THC4 is an autosomal dominant mild thrombocytopenia described in only one large family from New Zealand and due to a mutation (G41S) of the somatic isoform of the cytochrome c (CYCS) gene. 24326104

2014

dbSNP: rs121918552
rs121918552
0.810 GeneticVariation UNIPROT A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. 18345000

2008

dbSNP: rs121918552
rs121918552
T 0.810 CausalMutation CLINVAR