Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894624
rs104894624
PMP22
0.925 0.080 17 15230952 missense variant C/A;G;T snv 4.0E-06
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.710 1.000 16 1993 2002
dbSNP: rs104894624
rs104894624
PMP22
0.925 0.080 17 15230952 missense variant C/A;G;T snv 4.0E-06
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		0.700 0