Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs876658853
rs876658853
NF1
A 0.700 GeneticVariation CLINVAR A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. 23656349

2014
dbSNP: rs876658853
rs876658853
NF1
A 0.700 GeneticVariation CLINVAR NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. 23913538

2013
dbSNP: rs876658853
rs876658853
NF1
A 0.700 GeneticVariation CLINVAR Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1. 17726231

2007
dbSNP: rs876658853
rs876658853
NF1
A 0.700 GeneticVariation CLINVAR Two novel mutations of the NF1 gene in Chinese Han families with type 1 neurofibromatosis. 16005615

2005
dbSNP: rs876658853
rs876658853
NF1
A 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