Source: CURATED

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: rs121913585
rs121913585
MPZ
0.851 0.080 1 161307304 missense variant G/A;C snv
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		0.800 1.000 20 1993 2008
dbSNP: rs121913585
rs121913585
MPZ
0.851 0.080 1 161307304 missense variant G/A;C snv
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.710 1.000 12 1993 2003
dbSNP: rs121913585
rs121913585
MPZ
0.851 0.080 1 161307304 missense variant G/A;C snv
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		0.700 1.000 3 1993 2010
dbSNP: rs121913585
rs121913585
MPZ
0.851 0.080 1 161307304 missense variant G/A;C snv
CUI: C4016264
Disease: DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT 		0.700 0