rs143319805, OPA1

N. diseases: 12
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Behr syndrome
CUI: C0221061
Disease: Behr syndrome
5 0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 0.810 1.000 1 2016 2016
Optic Atrophy 1
CUI: C0338508
Disease: Optic Atrophy 1
45 0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 0.700 0
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
CUI: C3276549
Disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
22 0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 0.700 0
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 0.020 1.000 2 2017 2020
3-Methylglutaconic aciduria type 3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
13 0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 0.010 1.000 1 2014 2014
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 0.010 1.000 1 2016 2016
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 0.010 1.000 1 2016 2016
Congenital nystagmus
CUI: C0700501
Disease: Congenital nystagmus
5 0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 0.010 1.000 1 2020 2020
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 0.010 1.000 1 2020 2020
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 0.010 1.000 1 2020 2020
POLG mutation
CUI: C3888962
Disease: POLG mutation
7 0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 0.010 1.000 1 2019 2019
Pyramidal sign
CUI: C0234132
Disease: Pyramidal sign
10 0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 0.010 1.000 1 2016 2016