Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474732
rs199474732
NF1
0.800 GeneticVariation UNIPROT Six novel mutations in the neurofibromatosis type 1 (NF1) gene. 9298829

1997
dbSNP: rs199474732
rs199474732
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: rs199474732
rs199474732
NF1
0.800 GeneticVariation UNIPROT Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene. 9101300

1997
dbSNP: rs199474732
rs199474732
NF1
0.800 GeneticVariation UNIPROT Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. 9003501

1997
dbSNP: rs199474732
rs199474732
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: rs199474732
rs199474732
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: rs199474732
rs199474732
NF1
0.800 GeneticVariation UNIPROT Characterisation of inherited and sporadic mutations in neurofibromatosis type-1. 7981679

1994
dbSNP: rs199474732
rs199474732
NF1
0.800 GeneticVariation UNIPROT A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. 2114220

1990
dbSNP: rs199474732
rs199474732
NF1
0.800 GeneticVariation UNIPROT Analysis of mutations at the neurofibromatosis 1 (NF1) locus. 1302608

1992