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 A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. 8566958

1996
dbSNP: rs74315494
rs74315494
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		0.800 GeneticVariation UNIPROT A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. 8566958

1996
dbSNP: rs74315493
rs74315493
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		0.800 GeneticVariation UNIPROT A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. 8566958

1996
dbSNP: rs74315492
rs74315492
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		0.800 GeneticVariation UNIPROT A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. 8566958

1996
dbSNP: rs764441073
rs764441073
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		0.700 GeneticVariation UNIPROT A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. 8566958

1996
dbSNP: rs121434261
rs121434261
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		0.810 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs74315494
rs74315494
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs74315493
rs74315493
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs74315492
rs74315492
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs121434261
rs121434261
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		0.810 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs74315494
rs74315494
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs74315493
rs74315493
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs74315492
rs74315492
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs121434261
rs121434261
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		0.810 GeneticVariation UNIPROT Cloning and characterization of SCHIP-1, a novel protein interacting specifically with spliced isoforms and naturally occurring mutant NF2 proteins. 10669747

2000
dbSNP: rs74315494
rs74315494
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		0.800 GeneticVariation UNIPROT Cloning and characterization of SCHIP-1, a novel protein interacting specifically with spliced isoforms and naturally occurring mutant NF2 proteins. 10669747

2000
dbSNP: rs74315493
rs74315493
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		0.800 GeneticVariation UNIPROT Cloning and characterization of SCHIP-1, a novel protein interacting specifically with spliced isoforms and naturally occurring mutant NF2 proteins. 10669747

2000
dbSNP: rs74315492
rs74315492
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		0.800 GeneticVariation UNIPROT Cloning and characterization of SCHIP-1, a novel protein interacting specifically with spliced isoforms and naturally occurring mutant NF2 proteins. 10669747

2000
dbSNP: rs764441073
rs764441073
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		0.700 GeneticVariation UNIPROT Cloning and characterization of SCHIP-1, a novel protein interacting specifically with spliced isoforms and naturally occurring mutant NF2 proteins. 10669747

2000
dbSNP: rs121434261
rs121434261
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		0.810 GeneticVariation UNIPROT Detection of novel NF2 mutations by an RNA mismatch cleavage method. 10790209

2000
dbSNP: rs74315494
rs74315494
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		0.800 GeneticVariation UNIPROT Detection of novel NF2 mutations by an RNA mismatch cleavage method. 10790209

2000
dbSNP: rs74315493
rs74315493
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		0.800 GeneticVariation UNIPROT Detection of novel NF2 mutations by an RNA mismatch cleavage method. 10790209

2000
dbSNP: rs74315492
rs74315492
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		0.800 GeneticVariation UNIPROT Detection of novel NF2 mutations by an RNA mismatch cleavage method. 10790209

2000
dbSNP: rs764441073
rs764441073
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		0.700 GeneticVariation UNIPROT Detection of novel NF2 mutations by an RNA mismatch cleavage method. 10790209

2000