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: rs1553259707
rs1553259707
MPZ
0.851 0.080 1 161306911 missense variant T/C snv
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.710 1.000 12 1993 2003
dbSNP: rs1553259707
rs1553259707
MPZ
0.851 0.080 1 161306911 missense variant T/C snv
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		0.700 1.000 20 1993 2008
dbSNP: rs1553259707
rs1553259707
MPZ
0.851 0.080 1 161306911 missense variant T/C snv
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		0.700 1.000 8 1993 2015
dbSNP: rs1553259707
rs1553259707
MPZ
0.851 0.080 1 161306911 missense variant T/C snv
CUI: C1843075
Disease: Charcot-Marie-Tooth Disease, Dominant Intermediate D
Charcot-Marie-Tooth Disease, Dominant Intermediate D 		0.700 0