Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906780
rs387906780
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5
T 0.800 CausalMutation CLINVAR

dbSNP: rs137852768
rs137852768
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency
0.800 GeneticVariation UNIPROT

dbSNP: rs137852768
rs137852768
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency
A 0.800 CausalMutation CLINVAR

dbSNP: rs137852768
rs137852768
CUI: C3150898
Disease: CARDIOMYOPATHY, DILATED, 1GG
CARDIOMYOPATHY, DILATED, 1GG
A 0.800 CausalMutation CLINVAR

dbSNP: rs9809219
rs9809219
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 GeneticVariation UNIPROT

dbSNP: rs9809219
rs9809219
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency
T 0.700 CausalMutation CLINVAR

dbSNP: rs878854628
rs878854628
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5
C 0.700 GeneticVariation CLINVAR

dbSNP: rs878854628
rs878854628
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency
C 0.700 GeneticVariation CLINVAR

dbSNP: rs876659595
rs876659595
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 GeneticVariation CLINVAR

dbSNP: rs876658637
rs876658637
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
GCA 0.700 CausalMutation CLINVAR

dbSNP: rs876658486
rs876658486
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency
A 0.700 CausalMutation CLINVAR

dbSNP: rs876658486
rs876658486
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5
A 0.700 CausalMutation CLINVAR

dbSNP: rs876658486
rs876658486
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR

dbSNP: rs786205145
rs786205145
CUI: C3203483
Disease: Pulmonary chondroma
Pulmonary chondroma
T 0.700 GeneticVariation CLINVAR

dbSNP: rs786205145
rs786205145
CUI: C1858592
Disease: Carney Triad
Carney Triad
T 0.700 GeneticVariation CLINVAR

dbSNP: rs775827529
rs775827529
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency
T 0.700 CausalMutation CLINVAR

dbSNP: rs775827529
rs775827529
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5
T 0.700 CausalMutation CLINVAR

dbSNP: rs775143272
rs775143272
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency
T 0.700 CausalMutation CLINVAR

dbSNP: rs775143272
rs775143272
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5
T 0.700 CausalMutation CLINVAR

dbSNP: rs771328239
rs771328239
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5
T 0.700 CausalMutation CLINVAR

dbSNP: rs771328239
rs771328239
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency
T 0.700 CausalMutation CLINVAR

dbSNP: rs747939816
rs747939816
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 GeneticVariation CLINVAR

dbSNP: rs747249998
rs747249998
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5
G 0.700 CausalMutation CLINVAR

dbSNP: rs747249998
rs747249998
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency
G 0.700 CausalMutation CLINVAR

dbSNP: rs746165168
rs746165168
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR