Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1283284704
rs1283284704
FANCA
TCAGCTTCAGGTTGAATTTC 0.700 CausalMutation CLINVAR Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes. 26136524

2015
dbSNP: rs1283284704
rs1283284704
FANCA
TCAGCTTCAGGTTGAATTTC 0.700 CausalMutation CLINVAR Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology. 26740942

2015
dbSNP: rs1283284704
rs1283284704
FANCA
TCAGCTTCAGGTTGAATTTC 0.700 CausalMutation CLINVAR Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing. 22778927

2012
dbSNP: rs1283284704
rs1283284704
FANCA
TCAGCTTCAGGTTGAATTTC 0.700 CausalMutation CLINVAR Mutations of the Fanconi anemia group A gene (FAA) in Italian patients. 9399890

1997