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: rs745882980
rs745882980
Entrez Id: 2175;92822
Gene Symbol: FANCA;ZNF276
FANCA;ZNF276
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		A 0.700 GeneticVariation CLINVAR A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients. 28717661 2017
dbSNP: rs745882980
rs745882980
Entrez Id: 2175;92822
Gene Symbol: FANCA;ZNF276
FANCA;ZNF276
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		A 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: rs745882980
rs745882980
Entrez Id: 2175;92822
Gene Symbol: FANCA;ZNF276
FANCA;ZNF276
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		A 0.700 GeneticVariation CLINVAR Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients. 24037726 2013
dbSNP: rs745882980
rs745882980
Entrez Id: 2175;92822
Gene Symbol: FANCA;ZNF276
FANCA;ZNF276
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		A 0.700 GeneticVariation CLINVAR Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations. 21273304 2011
dbSNP: rs745882980
rs745882980
Entrez Id: 2175;92822
Gene Symbol: FANCA;ZNF276
FANCA;ZNF276
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		A 0.700 GeneticVariation CLINVAR Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study. 15643609 2005