Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474747
rs199474747
NF1
C 0.700 GeneticVariation CLINVAR The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE. 24413922

2014
dbSNP: rs199474747
rs199474747
NF1
C 0.700 GeneticVariation CLINVAR Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients. 23758643

2013
dbSNP: rs199474747
rs199474747
NF1
C 0.700 GeneticVariation CLINVAR Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. 23668869

2013
dbSNP: rs199474747
rs199474747
NF1
C 0.700 GeneticVariation CLINVAR Molecular diagnosis of neurofibromatosis type 1: 2 years experience. 16944272

2007
dbSNP: rs199474747
rs199474747
NF1
C 0.700 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