FANCA, FA complementation group A, 2175

N. diseases: 211; N. variants: 206
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1302083447
rs1302083447
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		G 0.700 GeneticVariation CLINVAR Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia. 29269525 2018
dbSNP: rs1302083447
rs1302083447
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		G 0.700 GeneticVariation CLINVAR Integrative field scale phenotyping for investigating metabolic components of water stress within a vineyard. 29093742 2017
dbSNP: rs1302083447
rs1302083447
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		G 0.700 GeneticVariation 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: rs1302083447
rs1302083447
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		G 0.700 GeneticVariation CLINVAR Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study. 15643609 2005