rs119103265, MFN2

N. diseases: 5
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.
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
11 0.827 0.120 1 12002033 missense variant C/T snv 0.820 1.000 2 2006 2011
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
144 0.827 0.120 1 12002033 missense variant C/T snv 0.700 1.000 10 2006 2017
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
21 0.827 0.120 1 12002033 missense variant C/T snv 0.700 0
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 0.827 0.120 1 12002033 missense variant C/T snv 0.020 1.000 2 2006 2011
Charcot-Marie-Tooth disease, Type 2A
CUI: C2079538
Disease: Charcot-Marie-Tooth disease, Type 2A
3 0.827 0.120 1 12002033 missense variant C/T snv 0.010 1.000 1 2011 2011