rs104894622, PMP22

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.
Dejerine-Sottas Disease (disorder)
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
45 0.882 0.080 17 15260692 missense variant G/T snv 0.700 1.000 16 1993 2002
DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
CUI: C4016264
Disease: DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
6 0.882 0.080 17 15260692 missense variant G/T snv 0.700 0
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
84 0.882 0.080 17 15260692 missense variant G/T snv 0.700 0