rs121918552, CYCS

N. diseases: 2
Disease: Thrombocytopenia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
0.710 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
0.710 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