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: 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 20 1993 2019
dbSNP: rs121913601
rs121913601
MPZ
0.851 0.080 1 161307259 missense variant G/A;C snv
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		0.810 1.000 20 1993 2008
dbSNP: rs121913586
rs121913586
MPZ
0.752 0.200 1 161306414 missense variant C/G;T snv
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.810 1.000 12 1993 2003
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: rs121913583
rs121913583
MPZ
0.925 0.080 1 161306870 missense variant T/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: rs121913584
rs121913584
MPZ
0.925 0.080 1 161306886 missense variant G/A;C;T snv 3.2E-05
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		0.800 1.000 20 1993 2015
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: rs121913587
rs121913587
MPZ
1.000 0.080 1 161306752 missense variant A/G snv
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		0.800 1.000 20 1993 2008
dbSNP: rs121913588
rs121913588
MPZ
0.925 0.080 1 161306747 missense variant C/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: rs121913589
rs121913589
MPZ
0.827 0.200 1 161306863 missense variant C/A;G;T snv
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		0.800 1.000 20 1993 2010
dbSNP: rs121913594
rs121913594
MPZ
0.882 0.080 1 161306914 missense variant T/C snv
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		0.800 1.000 20 1993 2011
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: rs121913598
rs121913598
MPZ
0.851 0.080 1 161307361 missense variant G/A snv
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		0.800 1.000 20 1993 2008
dbSNP: rs121913600
rs121913600
MPZ
0.925 0.080 1 161306848 missense variant C/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: rs121913603
rs121913603
MPZ
0.732 0.160 1 161306722 missense variant T/C;G snv 2.0E-05
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		0.800 1.000 20 1993 2008
dbSNP: rs267607247
rs267607247
MPZ
0.882 0.120 1 161305953 missense variant C/A snv
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		0.800 1.000 20 1993 2008
dbSNP: rs281865127
rs281865127
MPZ
0.827 0.120 1 161306767 missense variant T/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: rs281865128
rs281865128
MPZ
0.882 0.080 1 161306426 missense variant C/G;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: rs371856018
rs371856018
MPZ
0.882 0.120 1 161307376 missense variant T/C;G snv 8.0E-06
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		0.800 1.000 20 1993 2008
dbSNP: rs879253858
rs879253858
MPZ
0.882 0.120 1 161306753 missense variant T/G snv
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		0.800 1.000 20 1993 2015
dbSNP: rs121913586
rs121913586
MPZ
0.752 0.200 1 161306414 missense variant C/G;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: C3888087
Disease: Charcot-Marie-Tooth disease, Type 2I
Charcot-Marie-Tooth disease, Type 2I 		0.800 1.000 5 1998 2004
dbSNP: rs121913598
rs121913598
MPZ
0.851 0.080 1 161307361 missense variant G/A snv
CUI: C3888087
Disease: Charcot-Marie-Tooth disease, Type 2I
Charcot-Marie-Tooth disease, Type 2I 		0.800 1.000 5 1998 2004
dbSNP: rs121913604
rs121913604
MPZ
1.000 0.080 1 161307314 missense variant C/G snv
CUI: C3888087
Disease: Charcot-Marie-Tooth disease, Type 2I
Charcot-Marie-Tooth disease, Type 2I 		0.800 1.000 5 1998 2004
dbSNP: rs121913597
rs121913597
MPZ
0.827 0.160 1 161307268 missense variant T/A snv
CUI: C1843153
Disease: Charcot-Marie-Tooth disease, Type 2J
Charcot-Marie-Tooth disease, Type 2J 		0.800 1.000 4 1999 2006