Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917783
rs121917783
FANCC
A 0.710 CausalMutation CLINVAR Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. 23028338

2012
dbSNP: rs121917783
rs121917783
FANCC
A 0.710 CausalMutation CLINVAR Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing. 22778927

2012
dbSNP: rs121917783
rs121917783
FANCC
0.710 GeneticVariation BEFREE Accordingly, a homozygous inactivating FANCC nonsense mutation (c.553C > T, p.R185X) was identified in HuH-7, resulting in partial transcriptional skipping of exon 6 and leading to the classic cellular FA hypersensitivity phenotype; HuH-7 cells exhibited a strongly reduced proliferation rate and a pronounced G2 cell cycle arrest at distinctly lower concentrations of ICL-agents than a panel of non-isogenic, FA pathway-proficient HCC cell lines. 20509860

2010
dbSNP: rs121917783
rs121917783
FANCC
A 0.710 CausalMutation CLINVAR A nonsense mutation and exon skipping in the Fanconi anaemia group C gene. 7689011

1993