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: 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: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.720 1.000 18 1993 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: 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: 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: 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: rs104894618
rs104894618
PMP22
1.000 0.080 17 15239554 missense variant G/C 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: 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: rs104894625
rs104894625
PMP22
0.851 0.120 17 15260663 missense variant G/A;T snv
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
Charcot-Marie-Tooth Disease, Type Ia (disorder) 		0.810 1.000 14 1992 2004
dbSNP: rs104894627
rs104894627
PMP22
0.925 0.080 17 15259162 missense variant T/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: 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: 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: rs104894623
rs104894623
PMP22
0.851 0.200 17 15239591 missense variant C/G;T snv
CUI: C3495591
Disease: Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e 		0.800 1.000 4 1999 2004
dbSNP: rs104894626
rs104894626
PMP22
0.925 0.160 17 15259190 missense variant A/G snv
CUI: C3495591
Disease: Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e 		0.800 1.000 4 1999 2004
dbSNP: rs104894623
rs104894623
PMP22
0.851 0.200 17 15239591 missense variant C/G;T snv
CUI: C0393814
Disease: Hereditary liability to pressure palsies
Hereditary liability to pressure palsies 		0.800 1.000 3 1998 2004
dbSNP: rs104894625
rs104894625
PMP22
0.851 0.120 17 15260663 missense variant G/A;T snv
CUI: C0393814
Disease: Hereditary liability to pressure palsies
Hereditary liability to pressure palsies 		0.810 1.000 3 1998 2004
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: rs1426969421
rs1426969421
PMP22
1.000 0.080 17 15260649 splice donor variant C/A;T snv
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		0.700 1.000 2 2013 2014
dbSNP: rs80338763
rs80338763
PMP22
0.851 0.200 17 15239509 frameshift variant C/-;CC delins
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
Charcot-Marie-Tooth Disease, Type Ia (disorder) 		0.700 1.000 2 1997 1997
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
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
dbSNP: rs104894623
rs104894623
PMP22
0.851 0.200 17 15239591 missense variant C/G;T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.010 1.000 1 2002 2002