Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474750
rs199474750
NF1
0.810 GeneticVariation BEFREE Computational insights of K1444N substitution in GAP-related domain of NF1 gene associated with neurofibromatosis type 1 disease: a molecular modeling and dynamics approach. 29804243

2018

dbSNP: rs199474750
rs199474750
NF1
0.810 GeneticVariation UNIPROT The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE. 24413922

2014

dbSNP: rs199474750
rs199474750
NF1
0.810 GeneticVariation UNIPROT Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients. 23758643

2013

dbSNP: rs199474750
rs199474750
NF1
0.810 GeneticVariation UNIPROT Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas. 21838856

2011

dbSNP: rs199474750
rs199474750
NF1
C 0.810 CausalMutation CLINVAR Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. 18546366

2008

dbSNP: rs199474750
rs199474750
NF1
0.810 GeneticVariation UNIPROT Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1. 15523642

2004

dbSNP: rs199474750
rs199474750
NF1
0.810 GeneticVariation UNIPROT Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). 15520408

2004

dbSNP: rs199474750
rs199474750
NF1
0.810 GeneticVariation UNIPROT Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. 15146469

2004

dbSNP: rs199474750
rs199474750
NF1
0.810 GeneticVariation UNIPROT Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. 15060124

2004

dbSNP: rs199474750
rs199474750
NF1
0.810 GeneticVariation UNIPROT NF1 mutations and clinical spectrum in patients with spinal neurofibromas. 12746402

2003

dbSNP: rs199474750
rs199474750
NF1
0.810 GeneticVariation UNIPROT NF1 gene analysis based on DHPLC. 12552569

2003

dbSNP: rs199474750
rs199474750
NF1
0.810 GeneticVariation UNIPROT Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. 10607834

2000

dbSNP: rs199474750
rs199474750
NF1
0.810 GeneticVariation UNIPROT Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. 9668168

1998

dbSNP: rs199474750
rs199474750
NF1
0.810 GeneticVariation UNIPROT Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene. 9101300

1997

dbSNP: rs199474750
rs199474750
NF1
0.810 GeneticVariation UNIPROT Six novel mutations in the neurofibromatosis type 1 (NF1) gene. 9298829

1997

dbSNP: rs199474750
rs199474750
NF1
0.810 GeneticVariation UNIPROT Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene. 9150739

1997

dbSNP: rs199474750
rs199474750
NF1
0.810 GeneticVariation UNIPROT Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. 9003501

1997

dbSNP: rs199474750
rs199474750
NF1
0.810 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

dbSNP: rs199474750
rs199474750
NF1
0.810 GeneticVariation UNIPROT Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene. 8081387

1994

dbSNP: rs199474750
rs199474750
NF1
0.810 GeneticVariation UNIPROT Characterisation of inherited and sporadic mutations in neurofibromatosis type-1. 7981679

1994

dbSNP: rs199474750
rs199474750
NF1
0.810 GeneticVariation UNIPROT Analysis of mutations at the neurofibromatosis 1 (NF1) locus. 1302608

1992

dbSNP: rs199474750
rs199474750
NF1
0.810 GeneticVariation UNIPROT A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. 2114220

1990

dbSNP: rs199474750
rs199474750
NF1
A 0.810 GeneticVariation CLINVAR

dbSNP: rs137854566
rs137854566
NF1
G 0.800 CausalMutation CLINVAR Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. 29290338

2018

dbSNP: rs199474747
rs199474747
NF1
G 0.800 CausalMutation CLINVAR Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. 29290338

2018