Gene: FANCA ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1302083447
rs1302083447
FANCA
G 0.700 CausalMutation CLINVAR Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia. 29269525

2018
dbSNP: rs149797103
rs149797103
FANCA
A 0.700 GeneticVariation CLINVAR A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. 29098742

2018
dbSNP: rs745568821
rs745568821
FANCA
C 0.700 CausalMutation CLINVAR A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. 29098742

2018
dbSNP: rs745882980
rs745882980
FANCA ; ZNF276
A 0.700 GeneticVariation CLINVAR A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. 29098742

2018
dbSNP: rs756140957
rs756140957
FANCA
T 0.700 GeneticVariation CLINVAR A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. 29098742

2018
dbSNP: rs761341952
rs761341952
FANCA
T 0.700 CausalMutation CLINVAR A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. 29098742

2018
dbSNP: rs148473140
rs148473140
FANCA
A 0.700 CausalMutation CLINVAR Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. 28102861

2017
dbSNP: rs745882980
rs745882980
FANCA ; ZNF276
A 0.700 GeneticVariation CLINVAR Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. 28102861

2017
dbSNP: rs745882980
rs745882980
FANCA ; ZNF276
A 0.700 GeneticVariation CLINVAR A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients. 28717661

2017
dbSNP: rs761341952
rs761341952
FANCA
T 0.700 CausalMutation CLINVAR A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients. 28717661

2017
dbSNP: rs772359099
rs772359099
FANCA
T 0.700 CausalMutation CLINVAR Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer. 28423363

2017
dbSNP: rs1166286386
rs1166286386
FANCA
T 0.700 CausalMutation CLINVAR FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients. 26799702

2016
dbSNP: rs755546887
rs755546887
FANCA
A 0.700 CausalMutation CLINVAR FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients. 26799702

2016
dbSNP: rs755922289
rs755922289
FANCA
T 0.700 CausalMutation CLINVAR FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients. 26799702

2016
dbSNP: rs1555536446
rs1555536446
FANCA
G 0.700 CausalMutation CLINVAR Founder haplotype analysis of Fanconi anemia in the Korean population finds common ancestral haplotypes for a FANCG variant. 25703136

2015
dbSNP: rs397507552
rs397507552
FANCA
G 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: rs745568821
rs745568821
FANCA
C 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: rs745882980
rs745882980
FANCA ; ZNF276
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: rs747851434
rs747851434
FANCA
TC 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
FANCA
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: rs755922289
rs755922289
FANCA
T 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: rs769479800
rs769479800
FANCA
G 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: rs1555536446
rs1555536446
FANCA
G 0.700 CausalMutation CLINVAR Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. 23613520

2013
dbSNP: rs755546887
rs755546887
FANCA
A 0.700 CausalMutation CLINVAR Human Fanconi anemia complementation group a protein stimulates the 5' flap endonuclease activity of FEN1. 24349332

2013
dbSNP: rs755922289
rs755922289
FANCA
T 0.700 CausalMutation CLINVAR Human Fanconi anemia complementation group a protein stimulates the 5' flap endonuclease activity of FEN1. 24349332

2013