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: rs121913590
rs121913590
MPZ
0.851 0.080 1 161306864 missense variant G/A snv 7.0E-06
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		0.820 1.000 30 1993 2019
dbSNP: rs121913590
rs121913590
MPZ
0.851 0.080 1 161306864 missense variant G/A snv 7.0E-06
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.710 1.000 12 1993 2010
dbSNP: rs121913590
rs121913590
MPZ
0.851 0.080 1 161306864 missense variant G/A snv 7.0E-06
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		0.700 1.000 6 1996 2012