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: rs104894617
rs104894617
PMP22
0.851 0.080 17 15260681 missense variant A/G snv
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
Charcot-Marie-Tooth Disease, Type Ia (disorder) 		0.800 1.000 14 1992 2004
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: rs104894617
rs104894617
PMP22
0.851 0.080 17 15260681 missense variant A/G snv
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		0.700 1.000 10 1983 2015
dbSNP: rs104894617
rs104894617
PMP22
0.851 0.080 17 15260681 missense variant A/G snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.010 1.000 1 2014 2014