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: rs104894161
rs104894161
0.807 0.080 10 62813563 missense variant G/A snv
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
0.830 1.000 1 1999 2005
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: rs879253954
rs879253954
0.882 0.160 17 15230951 missense variant C/A;T snv
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
0.800 1.000 16 1993 2002
dbSNP: rs104894826
rs104894826
0.882 0.080 X 71224114 missense variant T/C snv
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
0.800 1.000 1 2005 2005
dbSNP: rs104894621
rs104894621
0.790 0.080 17 15239575 missense variant G/A snv
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
0.720 1.000 16 1993 2004
dbSNP: rs104894624
rs104894624
0.925 0.080 17 15230952 missense variant C/A;G;T snv 4.0E-06
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
0.710 1.000 16 1993 2002
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: 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: 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: rs775019409
rs775019409
1.000 0.080 17 15230953 missense variant G/A;T snv 8.0E-06
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
0.710 1.000 0 2000 2000
dbSNP: rs104894617
rs104894617
0.851 0.080 17 15260681 missense variant A/G snv
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
0.700 1.000 16 1993 2002
dbSNP: rs104894620
rs104894620
0.925 0.080 17 15239584 start lost A/G;T snv
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
0.700 1.000 16 1993 2002
dbSNP: rs104894622
rs104894622
0.882 0.080 17 15260692 missense variant G/T snv
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
0.700 1.000 16 1993 2002
dbSNP: rs267607241
rs267607241
MPZ
1.000 0.080 1 161306815 missense variant A/G snv
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
0.700 1.000 12 1993 2003
dbSNP: rs267607242
rs267607242
MPZ
1.000 0.080 1 161306810 missense variant T/G snv
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
0.700 1.000 12 1993 2003
dbSNP: rs267607243
rs267607243
MPZ
0.925 0.080 1 161306774 missense variant C/T snv
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
0.700 1.000 12 1993 2003
dbSNP: rs281865127
rs281865127
MPZ
0.827 0.120 1 161306767 missense variant T/C snv
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
0.700 1.000 12 1993 2003
dbSNP: rs879253858
rs879253858
MPZ
0.882 0.120 1 161306753 missense variant T/G snv
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
0.700 1.000 12 1993 2003
dbSNP: rs28936682
rs28936682
1.000 0.080 17 15230931 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
0.700 0