rs119103268, MFN2

N. diseases: 6
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.
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.827 0.080 1 11992689 missense variant C/T snv 0.710 1.000 4 2008 2014
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
144 0.827 0.080 1 11992689 missense variant C/T snv 0.700 1.000 11 2008 2015
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
21 0.827 0.080 1 11992689 missense variant C/T snv 0.700 0
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
CUI: C4310725
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
10 0.827 0.080 1 11992689 missense variant C/T snv 0.700 0
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
11 0.827 0.080 1 11992689 missense variant C/T snv 0.700 0
Severe psychomotor retardation
CUI: C1854919
Disease: Severe psychomotor retardation
3 0.827 0.080 1 11992689 missense variant C/T snv 0.010 1.000 1 2015 2015