Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514641
rs397514641
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		T 0.700 CausalMutation CLINVAR Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. 27838393

2017
dbSNP: rs397514641
rs397514641
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		T 0.700 CausalMutation CLINVAR Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population. 26056819

2015
dbSNP: rs397514641
rs397514641
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		T 0.700 CausalMutation CLINVAR A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations. 21278392

2011
dbSNP: rs397514641
rs397514641
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		T 0.700 CausalMutation CLINVAR Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1. 16835897

2006
dbSNP: rs397514641
rs397514641
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		T 0.700 CausalMutation CLINVAR Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. 15146469

2004
dbSNP: rs397514641
rs397514641
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		T 0.700 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: rs397514641
rs397514641
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		T 0.700 CausalMutation CLINVAR Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b. 10726756

2000
dbSNP: rs397514641
rs397514641
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		T 0.700 GeneticVariation CLINVAR