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: 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: 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: 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: 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: 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: 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
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: 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: rs690016543
rs690016543
SBF1
0.925 0.080 22 50465006 missense variant C/T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs724159958
rs724159958
IGHMBP2
0.925 0.080 11 68911496 missense variant T/G snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs724159994
rs724159994
IGHMBP2
0.882 0.120 11 68939658 frameshift variant AG/- delins
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs730882139
rs730882139
DNAJB2
0.925 0.080 2 219281772 splice donor variant G/A snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs730882140
rs730882140
DNAJB2
0.925 0.080 2 219279847 missense variant A/G snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
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: rs781249411
rs781249411
MARS1
0.925 0.080 12 57515926 missense variant C/A snv 3.6E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs797044801
rs797044801
AARS1
1.000 0.080 16 70254688 missense variant T/G snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs797044802
rs797044802
IGHMBP2
0.882 0.120 11 68908338 splice donor variant G/A;T snv 4.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0