Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864622431
rs864622431
NF1
G 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs864622431
rs864622431
NF1
G 0.700 CausalMutation CLINVAR Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. 18546366

2008
dbSNP: rs864622431
rs864622431
NF1
G 0.700 CausalMutation CLINVAR Molecular diagnosis of neurofibromatosis type 1: 2 years experience. 16944272

2007
dbSNP: rs864622431
rs864622431
NF1
G 0.700 CausalMutation CLINVAR The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs). 16786508

2006
dbSNP: rs864622431
rs864622431
NF1
G 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: rs864622431
rs864622431
NF1
G 0.700 CausalMutation CLINVAR Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. 9003501

1997