FANCA, FA complementation group A, 2175

N. diseases: 211; N. variants: 206
Disease: Fanconi Anemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs755546887
rs755546887
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease:
Fanconi Anemia 		A 0.700 CausalMutation CLINVAR FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients. 26799702 2016
dbSNP: rs755546887
rs755546887
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease:
Fanconi Anemia 		A 0.700 CausalMutation 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: rs755546887
rs755546887
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease:
Fanconi Anemia 		A 0.700 CausalMutation CLINVAR Human Fanconi anemia complementation group a protein stimulates the 5' flap endonuclease activity of FEN1. 24349332 2013
dbSNP: rs755546887
rs755546887
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease:
Fanconi Anemia 		A 0.700 CausalMutation CLINVAR Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing. 22778927 2012
dbSNP: rs755546887
rs755546887
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease:
Fanconi Anemia 		A 0.700 CausalMutation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555 2008