rs104894519, LITAF

N. diseases: 3
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, Type 1C
CUI: C0270913
Disease: Charcot-Marie-Tooth disease, Type 1C
9 0.882 0.080 16 11553576 missense variant C/T snv 0.810 1.000 11 2003 2017
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
84 0.882 0.080 16 11553576 missense variant C/T snv 0.700 0
Charcot-Marie-Tooth Disease, Type Ia (disorder)
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
24 0.882 0.080 16 11553576 missense variant C/T snv 0.010 1.000 1 2017 2017