Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434426
rs121434426
FANCG
0.710 GeneticVariation BEFREE Four common founder mutations were identified and included two FANCA mutations (c.2546delC and c.3720_3724delAAACA) and two FANCG mutations (c.307+1G>C and c.1066C>T), which had previously been commonly observed in a Japanese FA population. 23067021

2013
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: rs1060501862
rs1060501862
FANCG
T 0.700 GeneticVariation CLINVAR Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study. 12552564

2003
dbSNP: rs1060501887
rs1060501887
FANCA ; ZNF276
T 0.700 GeneticVariation CLINVAR Validation of Fanconi anemia complementation Group A assignment using molecular analysis. 19367192

2009
dbSNP: rs1205006300
rs1205006300
FANCL
A 0.700 GeneticVariation CLINVAR Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. 23613520

2013
dbSNP: rs1205006300
rs1205006300
FANCL
A 0.700 GeneticVariation CLINVAR Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. 19405097

2009
dbSNP: rs1380850249
rs1380850249
FANCA
C 0.700 GeneticVariation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555

2008
dbSNP: rs1432988639
rs1432988639
FANCA ; ZNF276
G 0.700 GeneticVariation CLINVAR

dbSNP: rs144729980
rs144729980
FANCL
T 0.700 GeneticVariation CLINVAR Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. 19405097

2009
dbSNP: rs144729980
rs144729980
FANCL
T 0.700 GeneticVariation CLINVAR Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. 23613520

2013
dbSNP: rs1447363475
rs1447363475
FANCA
C 0.700 GeneticVariation CLINVAR

dbSNP: rs145394391
rs145394391
FANCC
T 0.700 GeneticVariation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555

2008
dbSNP: rs149797103
rs149797103
FANCA
A 0.700 GeneticVariation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555

2008
dbSNP: rs149797103
rs149797103
FANCA
A 0.700 GeneticVariation CLINVAR A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. 29098742

2018
dbSNP: rs1554829441
rs1554829441
FANCC ; AOPEP
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554833186
rs1554833186
FANCC ; AOPEP
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555540076
rs1555540076
FANCA
G 0.700 GeneticVariation CLINVAR Validation of Fanconi anemia complementation Group A assignment using molecular analysis. 19367192

2009
dbSNP: rs1558727300
rs1558727300
VRK2 ; FANCL
G 0.700 GeneticVariation CLINVAR Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. 19405097

2009
dbSNP: rs1558727300
rs1558727300
VRK2 ; FANCL
G 0.700 GeneticVariation CLINVAR Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. 23613520

2013
dbSNP: rs1558737575
rs1558737575
VRK2 ; FANCL
C 0.700 GeneticVariation CLINVAR Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. 23613520

2013
dbSNP: rs1558737575
rs1558737575
VRK2 ; FANCL
C 0.700 GeneticVariation CLINVAR Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. 19405097

2009
dbSNP: rs1567601557
rs1567601557
FANCA
G 0.700 GeneticVariation CLINVAR Validation of Fanconi anemia complementation Group A assignment using molecular analysis. 19367192

2009
dbSNP: rs370510954
rs370510954
FANCC ; AOPEP
A 0.700 GeneticVariation CLINVAR

dbSNP: rs587779909
rs587779909
FANCC ; AOPEP
T 0.700 GeneticVariation CLINVAR

dbSNP: rs745495865
rs745495865
FANCF ; GAS2
C 0.700 GeneticVariation CLINVAR The Fanconi anemia gene product FANCF is a flexible adaptor protein. 15262960

2004