Source: CURATED

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: rs387906738
rs387906738
DYNC1H1
0.882 0.080 14 101980506 missense variant A/G snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 1 2011 2011
dbSNP: rs587781253
rs587781253
DYNC1H1
1.000 0.080 14 101985925 missense variant G/A snv 4.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 1 2014 2014
dbSNP: rs121908160
rs121908160
KIF1B
0.882 0.080 1 10258602 missense variant A/T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs199927590
rs199927590
DNM2
1.000 0.080 19 10797424 missense variant A/G snv 1.1E-04 1.0E-04
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 1 2014 2014
dbSNP: rs267607145
rs267607145
TRPV4
0.882 0.080 12 109798820 missense variant G/A;T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs267607143
rs267607143
TRPV4
0.851 0.080 12 109798823 missense variant G/A snv 7.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs267607144
rs267607144
TRPV4
0.716 0.360 12 109800665 missense variant C/T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs267607146
rs267607146
TRPV4
0.851 0.080 12 109800666 missense variant G/A;T snv 7.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs104894351
rs104894351
HSPB8 ; LOC107984440
0.827 0.080 12 119187078 missense variant A/C;G snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.710 1.000 0 2006 2006
dbSNP: rs104894345
rs104894345
HSPB8 ; LOC107984440
0.827 0.080 12 119187080 missense variant G/C;T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.720 1.000 0 2006 2017
dbSNP: rs121918312
rs121918312
BAG3
0.776 0.160 10 119672373 missense variant C/A;T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs119103268
rs119103268
MFN2
0.827 0.080 1 11992689 missense variant C/T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.710 1.000 4 2008 2014
dbSNP: rs28940294
rs28940294
MFN2
0.882 0.080 1 12001423 missense variant G/A snv 4.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 1 2006 2006
dbSNP: rs756880678
rs756880678
LRSAM1
0.925 0.080 9 127501009 splice acceptor variant G/A snv 2.0E-05 2.8E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs786200930
rs786200930
LRSAM1
0.925 0.080 9 127502846 frameshift variant -/GC delins
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.710 1.000 0 2017 2017
dbSNP: rs864622664
rs864622664
SH3TC2
0.925 0.080 5 149010294 frameshift variant C/- delins 7.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 1 2014 2014
dbSNP: rs80338933
rs80338933
SH3TC2
0.807 0.080 5 149026872 stop gained G/A snv 7.5E-04; 4.0E-06 6.6E-04
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.710 1.000 5 2003 2014
dbSNP: rs749850181
rs749850181
SH3TC2
1.000 0.080 5 149028348 stop gained C/A snv 1.2E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 1 2014 2014
dbSNP: rs1554122541
rs1554122541
SH3TC2
1.000 0.080 5 149038339 frameshift variant G/- del
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 1 2014 2014
dbSNP: rs864622180
rs864622180
PMP22
0.925 0.080 17 15259134 frameshift variant G/- delins
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 1 2014 2014
dbSNP: rs60864230
rs60864230
LMNA
0.790 0.280 1 156130658 missense variant G/A;C;T snv 4.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs59885338
rs59885338
LMNA
0.851 0.120 1 156135268 missense variant C/T snv 3.6E-05 2.8E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.730 1.000 0 2003 2008
dbSNP: rs57318642
rs57318642
LMNA
0.851 0.200 1 156137203 missense variant C/T snv 1.4E-05 1.4E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs80356814
rs80356814
LMNA
0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs142000963
rs142000963
LMNA
0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 2 2008 2014