Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474747
rs199474747
NF1
G 0.800 CausalMutation CLINVAR NF1 gene analysis based on DHPLC. 12552569

2003
dbSNP: rs199474747
rs199474747
NF1
0.800 GeneticVariation UNIPROT Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. 10607834

2000
dbSNP: rs199474747
rs199474747
NF1
C 0.800 CausalMutation CLINVAR Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. 10862084

2000
dbSNP: rs199474747
rs199474747
NF1
G 0.800 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: rs199474747
rs199474747
NF1
G 0.800 CausalMutation CLINVAR Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. 10862084

2000
dbSNP: rs199474747
rs199474747
NF1
C 0.800 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: rs199474747
rs199474747
NF1
0.800 GeneticVariation UNIPROT Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. 9668168

1998
dbSNP: rs199474747
rs199474747
NF1
0.800 GeneticVariation UNIPROT Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. 9003501

1997
dbSNP: rs199474747
rs199474747
NF1
0.800 GeneticVariation UNIPROT Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene. 9101300

1997
dbSNP: rs199474747
rs199474747
NF1
0.800 GeneticVariation UNIPROT Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene. 9150739

1997
dbSNP: rs199474747
rs199474747
NF1
0.800 GeneticVariation UNIPROT Six novel mutations in the neurofibromatosis type 1 (NF1) gene. 9298829

1997
dbSNP: rs199474747
rs199474747
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
dbSNP: rs199474747
rs199474747
NF1
0.800 GeneticVariation UNIPROT Characterisation of inherited and sporadic mutations in neurofibromatosis type-1. 7981679

1994
dbSNP: rs199474747
rs199474747
NF1
0.800 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: rs199474747
rs199474747
NF1
0.800 GeneticVariation UNIPROT Analysis of mutations at the neurofibromatosis 1 (NF1) locus. 1302608

1992
dbSNP: rs199474747
rs199474747
NF1
0.800 GeneticVariation UNIPROT A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. 2114220

1990
dbSNP: rs199474747
rs199474747
NF1
C 0.800 GeneticVariation CLINVAR