Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148100796
rs148100796
FANCA
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: rs148100796
rs148100796
FANCA
A 0.700 CausalMutation CLINVAR Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction. 12697994

2002
dbSNP: rs148100796
rs148100796
FANCA
A 0.700 CausalMutation CLINVAR High frequency of large intragenic deletions in the Fanconi anemia group A gene. 10521298

1999