rs119103267, MFN2

N. diseases: 7
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, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
21 0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04 0.800 1.000 12 2008 2019
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
CUI: C4310725
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
10 0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04 0.800 1.000 1 2015 2015
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
144 0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04 0.700 1.000 9 1976 2017
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
11 0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04 0.700 0
Lipomatosis, Multiple Symmetrical
CUI: C0023804
Disease: Lipomatosis, Multiple Symmetrical
2 0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04 0.020 1.000 2 2015 2019
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04 0.010 1.000 1 2015 2015
Lipodystrophy
CUI: C0023787
Disease: Lipodystrophy
28 0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04 0.010 1.000 1 2017 2017