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: rs755922289
rs755922289
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs755922289
rs755922289
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		T 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: rs755922289
rs755922289
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		T 0.700 GeneticVariation CLINVAR Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing. 22778927 2012
dbSNP: rs755922289
rs755922289
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		T 0.700 GeneticVariation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555 2008
dbSNP: rs755922289
rs755922289
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		T 0.700 GeneticVariation CLINVAR Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction. 12697994 2002
dbSNP: rs755922289
rs755922289
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		T 0.700 GeneticVariation CLINVAR The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG. 11063725 2000