rs80356529, OPA1

N. diseases: 9
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.
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 0.827 0.240 3 193643996 missense variant G/A;C snv 0.800 1.000 8 2004 2013
Optic Atrophy 1
CUI: C0338508
Disease: Optic Atrophy 1
45 0.827 0.240 3 193643996 missense variant G/A;C snv 0.710 1.000 21 2000 2013
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.827 0.240 3 193643996 missense variant G/A;C snv 0.700 1.000 13 2003 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.827 0.240 3 193643996 missense variant G/A;C snv 0.700 1.000 13 2003 2017
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 0.827 0.240 3 193643996 missense variant G/A;C snv 0.700 1.000 1 2017 2017
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 0.827 0.240 3 193643996 missense variant G/A;C snv 0.030 1.000 3 2003 2011
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.827 0.240 3 193643996 missense variant G/A;C snv 0.030 1.000 3 2005 2011
Dominant hereditary optic atrophy
CUI: C4551508
Disease: Dominant hereditary optic atrophy
14 0.827 0.240 3 193643996 missense variant G/A;C snv 0.010 1.000 1 2003 2003
Ophthalmoplegia
CUI: C0029089
Disease: Ophthalmoplegia
12 0.827 0.240 3 193643996 missense variant G/A;C snv 0.010 1.000 1 2005 2005