Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518904
rs1057518904
NF1
G 0.700 CausalMutation CLINVAR GABA deficit in the visual cortex of patients with neurofibromatosis type 1: genotype-phenotype correlations and functional impact. 23404336

2013
dbSNP: rs1057518904
rs1057518904
NF1
G 0.700 CausalMutation CLINVAR Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. 18546366

2008
dbSNP: rs1057518904
rs1057518904
NF1
G 0.700 CausalMutation CLINVAR Molecular diagnosis of neurofibromatosis type 1: 2 years experience. 16944272

2007
dbSNP: rs1057518904
rs1057518904
NF1
G 0.700 CausalMutation CLINVAR NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. 16380919

2005
dbSNP: rs1057518904
rs1057518904
NF1
G 0.700 CausalMutation CLINVAR Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. 10607834

2000
dbSNP: rs1057518904
rs1057518904
NF1
G 0.700 CausalMutation CLINVAR Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. 10712197

2000
dbSNP: rs1057518904
rs1057518904
NF1
G 0.700 CausalMutation CLINVAR Characterisation of inherited and sporadic mutations in neurofibromatosis type-1. 7981679

1994