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: 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: rs104894620
rs104894620
PMP22
0.925 0.080 17 15239584 start lost A/G;T snv
CUI: C4016264
Disease: DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT 		0.700 0