Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474745
rs199474745
NF1
C 0.800 GeneticVariation CLINVAR Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1. 17726231

2007
dbSNP: rs199474745
rs199474745
NF1
0.800 GeneticVariation UNIPROT Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. 10607834

2000
dbSNP: rs199474745
rs199474745
NF1
C 0.800 GeneticVariation 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: rs199474745
rs199474745
NF1
0.800 GeneticVariation UNIPROT Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms. 8834249

1996