AOPEP, aminopeptidase O (putative), 84909

N. diseases: 23; N. variants: 58
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs867319477
rs867319477
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		T 0.700 GeneticVariation CLINVAR Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant. 8882868 1996