Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786202457
rs786202457
NF1
T 0.700 CausalMutation CLINVAR Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations? 25074460

2015
dbSNP: rs786202457
rs786202457
NF1
T 0.700 CausalMutation CLINVAR Molecular diagnosis of neurofibromatosis type 1: 2 years experience. 16944272

2007
dbSNP: rs786202457
rs786202457
NF1
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: rs786202457
rs786202457
NF1
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