rs104894521, LITAF

N. diseases: 2
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 0.925 0.080 16 11553564 missense variant A/C snv 0.810 1.000 8 2003 2014
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
84 0.925 0.080 16 11553564 missense variant A/C snv 0.700 0