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: rs863225027
rs863225027
PMP22
0.882 0.120 17 15239555 missense variant A/T snv
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
Charcot-Marie-Tooth Disease, Type Ia (disorder) 		0.700 1.000 1 2011 2011
dbSNP: rs863225027
rs863225027
PMP22
0.882 0.120 17 15239555 missense variant A/T snv
CUI: C0393814
Disease: Hereditary liability to pressure palsies
Hereditary liability to pressure palsies 		0.010 1.000 1 2011 2011
dbSNP: rs863225027
rs863225027
PMP22
0.882 0.120 17 15239555 missense variant A/T snv
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.010 1.000 1 2011 2011