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: rs879253954
rs879253954
PMP22
0.882 0.160 17 15230951 missense variant C/A;T snv
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.800 1.000 16 1993 2002
dbSNP: rs879253954
rs879253954
PMP22
0.882 0.160 17 15230951 missense variant C/A;T snv
CUI: C3495591
Disease: Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e 		0.700 0
dbSNP: rs879253954
rs879253954
PMP22
0.882 0.160 17 15230951 missense variant C/A;T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.010 1.000 1 2014 2014
dbSNP: rs879253954
rs879253954
PMP22
0.882 0.160 17 15230951 missense variant C/A;T snv
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.010 1.000 1 1998 1998