Gene: FANCD2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs943009372
rs943009372
FANCD2
A 0.700 GeneticVariation CLINVAR Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. 23613520

2013
dbSNP: rs121917787
rs121917787
FANCD2
T 0.700 CausalMutation CLINVAR Insights into Fanconi Anaemia from the structure of human FANCE. 17308347

2007
dbSNP: rs766567785
rs766567785
FANCD2
A 0.700 CausalMutation CLINVAR Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype. 17436244

2007
dbSNP: rs943009372
rs943009372
FANCD2
A 0.700 GeneticVariation CLINVAR Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype. 17436244

2007
dbSNP: rs121917787
rs121917787
FANCD2
T 0.700 CausalMutation CLINVAR Positional cloning of a novel Fanconi anemia gene, FANCD2. 11239453

2001
dbSNP: rs1289665675
rs1289665675
FANCD2
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553607671
rs1553607671
FANCD2
CA 0.700 CausalMutation CLINVAR