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: rs182657062
rs182657062
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 defects identified by whole exome sequencing in a child with Fanconi anemia. 23973728 2013
dbSNP: rs182657062
rs182657062
Entrez Id: 2175;92822
Gene Symbol: FANCA;ZNF276
FANCA;ZNF276
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		A 0.700 GeneticVariation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555 2008
dbSNP: rs182657062
rs182657062
Entrez Id: 2175;92822
Gene Symbol: FANCA;ZNF276
FANCA;ZNF276
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		A 0.700 GeneticVariation CLINVAR Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants. 12444097 2002
dbSNP: rs182657062
rs182657062
Entrez Id: 2175;92822
Gene Symbol: FANCA;ZNF276
FANCA;ZNF276
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		A 0.700 GeneticVariation CLINVAR High frequency of large intragenic deletions in the Fanconi anemia group A gene. 10521298 1999