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: 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: rs113994102
rs113994102
CTDP1
0.925 0.160 18 79710825 intron variant C/T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 1 2005 2005
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: 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: rs121913595
rs121913595
MPZ
0.742 0.160 1 161306785 missense variant G/A;T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.760 1.000 0 1999 2004
dbSNP: rs121913597
rs121913597
MPZ
0.827 0.160 1 161307268 missense variant T/A snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.710 1.000 0 2000 2000
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: rs137852667
rs137852667
IGHMBP2
0.882 0.120 11 68935404 missense variant G/A snv 4.4E-05
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
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: 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: 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: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.882 0.120 MT 9185 missense variant T/C snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 1 2012 2012
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: 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
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: 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: 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: 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: rs372000714
rs372000714
IGHMBP2
0.882 0.120 11 68906120 stop gained T/A snv 1.6E-05 7.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0