rs74315504, NF2

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neurofibromatosis 2
CUI: C0027832
Disease: Neurofibromatosis 2
0.700 CausalMutation CLINVAR A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene. 26066488 2015
Neurofibromatosis 2
CUI: C0027832
Disease: Neurofibromatosis 2
0.700 CausalMutation CLINVAR Application of COLD-PCR for improved detection of NF2 mosaic mutations. 24815379 2014
Neurofibromatosis 2
CUI: C0027832
Disease: Neurofibromatosis 2
0.700 CausalMutation CLINVAR Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2. 18766994 2008
Neurofibromatosis 2
CUI: C0027832
Disease: Neurofibromatosis 2
0.700 CausalMutation CLINVAR [Phenotype-genotype study in 154 French NF2 mutation carriers]. 18033041 2007
Neurofibromatosis 2
CUI: C0027832
Disease: Neurofibromatosis 2
0.700 CausalMutation CLINVAR Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas. 12566519 2003
Neurofibromatosis 2
CUI: C0027832
Disease: Neurofibromatosis 2
0.700 CausalMutation CLINVAR Mutational analysis of patients with neurofibromatosis 2. 7913580 1994
Neurofibromatosis 2
CUI: C0027832
Disease: Neurofibromatosis 2
0.700 CausalMutation CLINVAR Exon scanning for mutation of the NF2 gene in schwannomas. 8012353 1994