rs1553259643, MPZ

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
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.925 0.080 1 161306719 frameshift variant TACA/- delins 0.700 1.000 1 2014 2014
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
84 0.925 0.080 1 161306719 frameshift variant TACA/- delins 0.700 1.000 1 2014 2014