Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147021911
rs147021911
FANCM
T 0.700 SusceptibilityMutation CLINVAR FANCM c.5101C>T mutation associates with breast cancer survival and treatment outcome. 27542569

2016
dbSNP: rs147021911
rs147021911
FANCM
T 0.700 SusceptibilityMutation CLINVAR Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology. 26740942

2015
dbSNP: rs147021911
rs147021911
FANCM
T 0.700 SusceptibilityMutation CLINVAR Distribution and medical impact of loss-of-function variants in the Finnish founder population. 25078778

2014
dbSNP: rs147021911
rs147021911
FANCM
T 0.700 SusceptibilityMutation CLINVAR Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer. 25288723

2014
dbSNP: rs147021911
rs147021911
FANCM
T 0.700 SusceptibilityMutation CLINVAR Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M. 19423727

2009
dbSNP: rs147021911
rs147021911
FANCM
T 0.700 SusceptibilityMutation CLINVAR A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. 16116422

2005