rs28940291, MFN2

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.
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
144 0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06 0.700 1.000 11 2004 2014
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
21 0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06 0.700 1.000 5 2004 2011
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
CUI: C4310725
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
10 0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06 0.700 1.000 5 2008 2016
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
11 0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06 0.700 1.000 4 2006 2015
Charcot-Marie-Tooth disease, Type 2A
CUI: C2079538
Disease: Charcot-Marie-Tooth disease, Type 2A
3 0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06 0.030 1.000 3 2007 2011
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06 0.020 1.000 2 2010 2019
Distal amyotrophy
CUI: C1848736
Disease: Distal amyotrophy
7 0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
Neuropathy
CUI: C0442874
Disease: Neuropathy
110 0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06 0.010 1.000 1 2010 2010
Polyneuropathy
CUI: C0152025
Disease: Polyneuropathy
32 0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06 0.010 1.000 1 2007 2007