rs28940292, 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.
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
21 0.851 0.080 1 12011510 missense variant G/C snv 0.800 1.000 6 2004 2015
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
CUI: C4310725
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
10 0.851 0.080 1 12011510 missense variant G/C 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 0.851 0.080 1 12011510 missense variant G/C snv 0.700 0
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
144 0.851 0.080 1 12011510 missense variant G/C snv 0.700 0