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: rs587781250
rs587781250
HSPB1
1.000 0.080 7 76303817 missense variant G/A;T snv 4.0E-06 2.8E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 5 2004 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: 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: rs1553259643
rs1553259643
MPZ
0.925 0.080 1 161306719 frameshift variant TACA/- delins
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 1 2014 2014
dbSNP: rs1553259703
rs1553259703
MPZ
0.925 0.080 1 161306900 stop gained G/A snv
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: 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: 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: 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: rs587777712
rs587777712
ARHGEF10
1.000 0.080 8 1882687 missense variant G/A;C snv 1.8E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 1 2014 2014
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: 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: rs756461496
rs756461496
GDAP1
0.925 0.080 8 74364305 frameshift variant -/T delins 4.0E-06 2.1E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 1 2014 2014
dbSNP: rs760730366
rs760730366
MPZ
1.000 0.080 1 161307356 frameshift variant GGGAGCCC/- delins 1.2E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 1 2014 2014
dbSNP: rs863225026
rs863225026
MPZ
0.925 0.080 1 161305973 splice acceptor variant TCTGGGGGAGGGGCG/- delins
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: 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: rs886041386
rs886041386
GDAP1
1.000 0.080 8 74361900 frameshift variant A/- del 4.0E-06 2.8E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 1 2014 2014
dbSNP: rs104894078
rs104894078
GDAP1
0.851 0.080 8 74360184 missense variant C/T snv 7.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.720 1.000 0 2010 2015
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: 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: 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: rs145770066
rs145770066
MED25 ; MIR6800
0.882 0.080 19 49830790 missense variant C/T snv 3.8E-03 4.3E-03
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.710 1.000 0 2009 2009
dbSNP: rs1555937009
rs1555937009
GJB1
1.000 0.080 X 71223757 missense variant C/G snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs267606621
rs267606621
AARS1
0.882 0.080 16 70268356 missense variant C/T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.710 1.000 0 2012 2012