Source: UNIPROT

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: rs121913595
rs121913595
MPZ
0.742 0.160 1 161306785 missense variant G/A;T snv
CUI: C1843153
Disease: Charcot-Marie-Tooth disease, Type 2J
Charcot-Marie-Tooth disease, Type 2J 		0.810 1.000 4 1999 2009
dbSNP: rs121913595
rs121913595
MPZ
0.742 0.160 1 161306785 missense variant G/A;T snv
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		0.800 1.000 20 1993 2008
dbSNP: rs121913595
rs121913595
MPZ
0.742 0.160 1 161306785 missense variant G/A;T snv
CUI: C3888087
Disease: Charcot-Marie-Tooth disease, Type 2I
Charcot-Marie-Tooth disease, Type 2I 		0.800 1.000 5 1998 2004
dbSNP: rs121913595
rs121913595
MPZ
0.742 0.160 1 161306785 missense variant G/A;T snv
CUI: C4722277
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2
NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 		0.800 1.000 3 1996 2004