Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1564641485
rs1564641485
FANCC ; AOPEP ; LOC107987102
T 0.700 CausalMutation CLINVAR Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. 24584348

2014
dbSNP: rs1564641485
rs1564641485
FANCC ; AOPEP ; LOC107987102
T 0.700 CausalMutation CLINVAR Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant. 8882868

1996
dbSNP: rs1564641485
rs1564641485
FANCC ; AOPEP ; LOC107987102
T 0.700 CausalMutation CLINVAR FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia. 8103176

1993