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: 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: rs104894621
rs104894621
PMP22
0.790 0.080 17 15239575 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1992 2015
dbSNP: rs104894621
rs104894621
PMP22
0.790 0.080 17 15239575 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 20 1992 2015
dbSNP: rs104894621
rs104894621
PMP22
0.790 0.080 17 15239575 missense variant G/A snv
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
Charcot-Marie-Tooth Disease, Type Ia (disorder) 		0.700 1.000 14 1992 2004
dbSNP: rs104894621
rs104894621
PMP22
0.790 0.080 17 15239575 missense variant G/A snv
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		0.700 1.000 5 1993 2001
dbSNP: rs104894621
rs104894621
PMP22
0.790 0.080 17 15239575 missense variant G/A snv
CUI: C4016264
Disease: DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs104894621
rs104894621
PMP22
0.790 0.080 17 15239575 missense variant G/A snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.020 1.000 2 2004 2009
dbSNP: rs104894621
rs104894621
PMP22
0.790 0.080 17 15239575 missense variant G/A snv
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.020 1.000 2 1998 1999
dbSNP: rs104894621
rs104894621
PMP22
0.790 0.080 17 15239575 missense variant G/A snv
CUI: C0393818
Disease: Congenital hypomyelinating neuropathy
Congenital hypomyelinating neuropathy 		0.010 1.000 1 2004 2004