rs773159585, MFN2

N. diseases: 4
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 Type II
144 0.882 0.080 1 11998877 missense variant C/T snv 8.0E-06 0.700 1.000 2 2005 2014
Distal lower limb amyotrophy
CUI: C1836451
Disease: Distal lower limb amyotrophy
8 0.882 0.080 1 11998877 missense variant C/T snv 8.0E-06 0.700 0
Distal muscle weakness
CUI: C0427065
Disease: Distal muscle weakness
16 0.882 0.080 1 11998877 missense variant C/T snv 8.0E-06 0.700 0
Peripheral axonal neuropathy
CUI: C1263857
Disease: Peripheral axonal neuropathy
12 0.882 0.080 1 11998877 missense variant C/T snv 8.0E-06 0.700 0