Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060500252
rs1060500252
G 0.700 CausalMutation CLINVAR NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. 23913538

2013

dbSNP: rs1060500252
rs1060500252
G 0.700 CausalMutation CLINVAR Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. 23668869

2013