Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs780825099
rs780825099
FANCA
G 0.800 GeneticVariation CLINVAR A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. 29098742

2018
dbSNP: rs753063086
rs753063086
FANCA
A 0.800 GeneticVariation CLINVAR A germline FANCA alteration that is associated with increased sensitivity to DNA damaging agents. 28864460

2017
dbSNP: rs148473140
rs148473140
FANCA
A 0.800 GeneticVariation CLINVAR FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients. 26799702

2016
dbSNP: rs574034197
rs574034197
FANCA
C 0.800 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs148473140
rs148473140
FANCA
A 0.800 GeneticVariation CLINVAR Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients. 24037726

2013
dbSNP: rs753063086
rs753063086
FANCA
A 0.800 GeneticVariation CLINVAR Fanconi anemia signaling network regulates the spindle assembly checkpoint. 23934222

2013
dbSNP: rs753063086
rs753063086
FANCA
A 0.800 GeneticVariation CLINVAR Human Fanconi anemia complementation group a protein stimulates the 5' flap endonuclease activity of FEN1. 24349332

2013
dbSNP: rs149277003
rs149277003
FANCA
C 0.800 GeneticVariation CLINVAR Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing. 22778927

2012
dbSNP: rs574034197
rs574034197
FANCA
C 0.800 GeneticVariation CLINVAR Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing. 22778927

2012
dbSNP: rs149277003
rs149277003
FANCA
C 0.800 GeneticVariation CLINVAR Validation of Fanconi anemia complementation Group A assignment using molecular analysis. 19367192

2009
dbSNP: rs574034197
rs574034197
FANCA
C 0.800 GeneticVariation CLINVAR Diagnosis of Fanconi anemia in patients with bone marrow failure. 19278965

2009
dbSNP: rs574034197
rs574034197
FANCA
0.800 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064

2009
dbSNP: rs574034197
rs574034197
FANCA
C 0.800 GeneticVariation CLINVAR Validation of Fanconi anemia complementation Group A assignment using molecular analysis. 19367192

2009
dbSNP: rs753063086
rs753063086
FANCA
A 0.800 GeneticVariation CLINVAR Validation of Fanconi anemia complementation Group A assignment using molecular analysis. 19367192

2009
dbSNP: rs753063086
rs753063086
FANCA
0.800 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064

2009
dbSNP: rs780825099
rs780825099
FANCA
0.800 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064

2009
dbSNP: rs148473140
rs148473140
FANCA
0.800 GeneticVariation UNIPROT Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555

2008
dbSNP: rs149277003
rs149277003
FANCA
0.800 GeneticVariation UNIPROT Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555

2008
dbSNP: rs574034197
rs574034197
FANCA
C 0.800 GeneticVariation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555

2008
dbSNP: rs574034197
rs574034197
FANCA
0.800 GeneticVariation UNIPROT Carrier screening in individuals of Ashkenazi Jewish descent. 18197057

2008
dbSNP: rs574034197
rs574034197
FANCA
0.800 GeneticVariation UNIPROT Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555

2008
dbSNP: rs753063086
rs753063086
FANCA
0.800 GeneticVariation UNIPROT Carrier screening in individuals of Ashkenazi Jewish descent. 18197057

2008
dbSNP: rs753063086
rs753063086
FANCA
0.800 GeneticVariation UNIPROT Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555

2008
dbSNP: rs780825099
rs780825099
FANCA
0.800 GeneticVariation UNIPROT Carrier screening in individuals of Ashkenazi Jewish descent. 18197057

2008
dbSNP: rs780825099
rs780825099
FANCA
G 0.800 GeneticVariation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555

2008