Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786203950
rs786203950
NF1
T 0.700 CausalMutation CLINVAR Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. 23668869

2013
dbSNP: rs786203950
rs786203950
NF1
T 0.700 CausalMutation CLINVAR Germline and somatic NF1 gene mutations in plexiform neurofibromas. 18484666

2008
dbSNP: rs786203950
rs786203950
NF1
T 0.700 CausalMutation CLINVAR Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. 15146469

2004
dbSNP: rs786203950
rs786203950
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
dbSNP: rs786203950
rs786203950
NF1
T 0.700 CausalMutation CLINVAR Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors. 9463322

1998