FANCA, FA complementation group A, 2175

N. diseases: 211; N. variants: 206
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs780825099
rs780825099
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		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
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		A 0.800 GeneticVariation CLINVAR A germline FANCA alteration that is associated with increased sensitivity to DNA damaging agents. 28864460 2017
dbSNP: rs148473140
rs148473140
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		A 0.800 GeneticVariation CLINVAR FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients. 26799702 2016
dbSNP: rs574034197
rs574034197
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		C 0.800 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs12921383
rs12921383
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C2242817
Disease:
Homocysteine measurement 		T 0.800 GeneticVariation GWASCAT Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. 23824729 2013
dbSNP: rs12921383
rs12921383
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C2242817
Disease:
Homocysteine measurement 		T 0.800 GeneticVariation GWASDB Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. 23824729 2013
dbSNP: rs148473140
rs148473140
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		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
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		A 0.800 GeneticVariation CLINVAR Fanconi anemia signaling network regulates the spindle assembly checkpoint. 23934222 2013
dbSNP: rs753063086
rs753063086
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		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
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		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
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		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: rs9926296
rs9926296
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0042900
Disease:
Vitiligo 		A 0.800 GeneticVariation GWASDB Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. 22561518 2012
dbSNP: rs9926296
rs9926296
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0042900
Disease:
Vitiligo 		A 0.800 GeneticVariation GWASCAT Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. 22561518 2012
dbSNP: rs12931267
rs12931267
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0018498
Disease:
Hair Color 		G 0.800 GeneticVariation GWASCAT Web-based, participant-driven studies yield novel genetic associations for common traits. 20585627 2010
dbSNP: rs12931267
rs12931267
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0018498
Disease:
Hair Color 		G 0.800 GeneticVariation GWASDB Web-based, participant-driven studies yield novel genetic associations for common traits. 20585627 2010
dbSNP: rs149277003
rs149277003
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		C 0.800 GeneticVariation CLINVAR Validation of Fanconi anemia complementation Group A assignment using molecular analysis. 19367192 2009
dbSNP: rs574034197
rs574034197
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		C 0.800 GeneticVariation CLINVAR Diagnosis of Fanconi anemia in patients with bone marrow failure. 19278965 2009
dbSNP: rs574034197
rs574034197
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		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
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		C 0.800 GeneticVariation CLINVAR Validation of Fanconi anemia complementation Group A assignment using molecular analysis. 19367192 2009
dbSNP: rs753063086
rs753063086
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		A 0.800 GeneticVariation CLINVAR Validation of Fanconi anemia complementation Group A assignment using molecular analysis. 19367192 2009
dbSNP: rs753063086
rs753063086
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		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
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		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
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.800 GeneticVariation UNIPROT Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555 2008
dbSNP: rs149277003
rs149277003
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.800 GeneticVariation UNIPROT Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555 2008
dbSNP: rs574034197
rs574034197
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		C 0.800 GeneticVariation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555 2008