Source: ALL

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: rs879253954
rs879253954
PMP22
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: rs104894621
rs104894621
PMP22
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 18 1993 2004
dbSNP: rs104894624
rs104894624
PMP22
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: rs775019409
rs775019409
PMP22
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 1 2000 2000
dbSNP: rs104894617
rs104894617
PMP22
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
PMP22
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
PMP22
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: rs28936682
rs28936682
PMP22
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
dbSNP: rs863225027
rs863225027
PMP22
0.882 0.120 17 15239555 missense variant A/T snv
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.010 1.000 1 2011 2011