Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs766974263
rs766974263
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
0.700 GeneticVariation UNIPROT

dbSNP: rs74315503
rs74315503
NF2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT

dbSNP: rs121434261
rs121434261
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
0.810 GeneticVariation UNIPROT Diagnostic issues in a family with late onset type 2 neurofibromatosis. 7666400

1995

dbSNP: rs74315494
rs74315494
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
0.800 GeneticVariation UNIPROT Diagnostic issues in a family with late onset type 2 neurofibromatosis. 7666400

1995

dbSNP: rs74315493
rs74315493
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
0.800 GeneticVariation UNIPROT Diagnostic issues in a family with late onset type 2 neurofibromatosis. 7666400

1995

dbSNP: rs74315492
rs74315492
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
0.800 GeneticVariation UNIPROT Diagnostic issues in a family with late onset type 2 neurofibromatosis. 7666400

1995

dbSNP: rs764441073
rs764441073
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
0.700 GeneticVariation UNIPROT Diagnostic issues in a family with late onset type 2 neurofibromatosis. 7666400

1995

dbSNP: rs121434261
rs121434261
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
0.810 GeneticVariation UNIPROT Eleven novel mutations in the NF2 tumour suppressor gene. 7759081

1995

dbSNP: rs74315494
rs74315494
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
0.800 GeneticVariation UNIPROT Eleven novel mutations in the NF2 tumour suppressor gene. 7759081

1995

dbSNP: rs74315493
rs74315493
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
0.800 GeneticVariation UNIPROT Eleven novel mutations in the NF2 tumour suppressor gene. 7759081

1995

dbSNP: rs74315492
rs74315492
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
0.800 GeneticVariation UNIPROT Eleven novel mutations in the NF2 tumour suppressor gene. 7759081

1995

dbSNP: rs764441073
rs764441073
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
0.700 GeneticVariation UNIPROT Eleven novel mutations in the NF2 tumour suppressor gene. 7759081

1995

dbSNP: rs121434261
rs121434261
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
0.810 GeneticVariation UNIPROT Mutational analysis of patients with neurofibromatosis 2. 7913580

1994

dbSNP: rs74315494
rs74315494
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
0.800 GeneticVariation UNIPROT Mutational analysis of patients with neurofibromatosis 2. 7913580

1994

dbSNP: rs74315493
rs74315493
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
0.800 GeneticVariation UNIPROT Mutational analysis of patients with neurofibromatosis 2. 7913580

1994

dbSNP: rs74315492
rs74315492
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
0.800 GeneticVariation UNIPROT Mutational analysis of patients with neurofibromatosis 2. 7913580

1994

dbSNP: rs764441073
rs764441073
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
0.700 GeneticVariation UNIPROT Mutational analysis of patients with neurofibromatosis 2. 7913580

1994

dbSNP: rs121434261
rs121434261
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
0.810 GeneticVariation UNIPROT Germline mutations in the neurofibromatosis type 2 tumour suppressor gene. 8081368

1994

dbSNP: rs74315494
rs74315494
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
0.800 GeneticVariation UNIPROT Germline mutations in the neurofibromatosis type 2 tumour suppressor gene. 8081368

1994

dbSNP: rs74315493
rs74315493
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
0.800 GeneticVariation UNIPROT Germline mutations in the neurofibromatosis type 2 tumour suppressor gene. 8081368

1994

dbSNP: rs74315492
rs74315492
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
0.800 GeneticVariation UNIPROT Germline mutations in the neurofibromatosis type 2 tumour suppressor gene. 8081368

1994

dbSNP: rs764441073
rs764441073
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
0.700 GeneticVariation UNIPROT Germline mutations in the neurofibromatosis type 2 tumour suppressor gene. 8081368

1994

dbSNP: rs121434261
rs121434261
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
0.810 GeneticVariation UNIPROT DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree. 8230593

1993

dbSNP: rs74315494
rs74315494
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
0.800 GeneticVariation UNIPROT DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree. 8230593

1993

dbSNP: rs74315493
rs74315493
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
0.800 GeneticVariation UNIPROT DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree. 8230593

1993