Gene: NF2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs764441073
rs764441073
NF2
0.700 GeneticVariation UNIPROT Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations. 20445339

2010
dbSNP: rs121434261
rs121434261
NF2
0.810 GeneticVariation UNIPROT Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus. 20178741

2010
dbSNP: rs74315492
rs74315492
NF2
0.800 GeneticVariation UNIPROT Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus. 20178741

2010
dbSNP: rs74315493
rs74315493
NF2
0.800 GeneticVariation UNIPROT Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus. 20178741

2010
dbSNP: rs74315494
rs74315494
NF2
0.800 GeneticVariation UNIPROT Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus. 20178741

2010
dbSNP: rs764441073
rs764441073
NF2
0.700 GeneticVariation UNIPROT Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus. 20178741

2010
dbSNP: rs74315504
rs74315504
NF2
T 0.700 CausalMutation CLINVAR Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2. 18766994

2008
dbSNP: rs1555993345
rs1555993345
NF2
T 0.700 CausalMutation CLINVAR Identification of mutations in the NF2 gene in Polish patients with neurofibromatosis type 2. 18670066

2008
dbSNP: rs1555993336
rs1555993336
NF2
T 0.700 CausalMutation CLINVAR What are the implications in individuals with unilateral vestibular schwannoma and other neurogenic tumors? 18173316

2008
dbSNP: rs121434259
rs121434259
NF2
T 0.700 CausalMutation CLINVAR [Phenotype-genotype study in 154 French NF2 mutation carriers]. 18033041

2007
dbSNP: rs1555993336
rs1555993336
NF2
T 0.700 CausalMutation CLINVAR [Phenotype-genotype study in 154 French NF2 mutation carriers]. 18033041

2007
dbSNP: rs1555993345
rs1555993345
NF2
T 0.700 CausalMutation CLINVAR [Phenotype-genotype study in 154 French NF2 mutation carriers]. 18033041

2007
dbSNP: rs74315504
rs74315504
NF2
T 0.700 CausalMutation CLINVAR [Phenotype-genotype study in 154 French NF2 mutation carriers]. 18033041

2007
dbSNP: rs1555994854
rs1555994854
NF2
A 0.700 GeneticVariation CLINVAR Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings. 16983642

2007
dbSNP: rs1569293488
rs1569293488
NF2
G 0.700 GeneticVariation CLINVAR Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings. 16983642

2007
dbSNP: rs1569302393
rs1569302393
NF2
A 0.700 CausalMutation CLINVAR Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings. 16983642

2007
dbSNP: rs1569304774
rs1569304774
NF2
A 0.700 GeneticVariation CLINVAR Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings. 16983642

2007
dbSNP: rs121434261
rs121434261
NF2
0.810 GeneticVariation UNIPROT Preimplantation diagnosis for neurofibromatosis. 12709270

2003
dbSNP: rs74315492
rs74315492
NF2
0.800 GeneticVariation UNIPROT Preimplantation diagnosis for neurofibromatosis. 12709270

2003
dbSNP: rs74315493
rs74315493
NF2
0.800 GeneticVariation UNIPROT Preimplantation diagnosis for neurofibromatosis. 12709270

2003
dbSNP: rs74315494
rs74315494
NF2
0.800 GeneticVariation UNIPROT Preimplantation diagnosis for neurofibromatosis. 12709270

2003
dbSNP: rs764441073
rs764441073
NF2
0.700 GeneticVariation UNIPROT Preimplantation diagnosis for neurofibromatosis. 12709270

2003
dbSNP: rs74315504
rs74315504
NF2
T 0.700 CausalMutation CLINVAR Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas. 12566519

2003
dbSNP: rs1555993336
rs1555993336
NF2
T 0.700 CausalMutation CLINVAR The parental origin of new mutations in neurofibromatosis 2. 11085592

2000
dbSNP: rs121434261
rs121434261
NF2
0.810 GeneticVariation UNIPROT Detection of novel NF2 mutations by an RNA mismatch cleavage method. 10790209

2000