Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434259
rs121434259
NF2
T 0.700 CausalMutation CLINVAR Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy. 26073919

2018
dbSNP: rs121434259
rs121434259
NF2
T 0.700 CausalMutation CLINVAR [Phenotype-genotype study in 154 French NF2 mutation carriers]. 18033041

2007
dbSNP: rs121434259
rs121434259
NF2
T 0.700 CausalMutation CLINVAR Molecular characterization of germline mutations in neurofibromatosis 2 in two families. 9884492

1998
dbSNP: rs121434259
rs121434259
NF2
T 0.700 CausalMutation CLINVAR Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes. 8882871

1996
dbSNP: rs121434259
rs121434259
NF2
T 0.700 CausalMutation CLINVAR Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. 8379998

1993