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: rs1057518843
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.700 0
dbSNP: rs1057518962
rs1057518962
DMD
X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.700 0
dbSNP: rs118192174
rs118192174
RYR1
0.882 0.200 19 38499961 missense variant T/A snv 2.0E-05 2.1E-05
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.700 0
dbSNP: rs119103263
rs119103263
MFN2
0.827 0.240 1 11992659 missense variant C/T snv
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.700 0
dbSNP: rs121912854
rs121912854
COL7A1
0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.700 0
dbSNP: rs121912855
rs121912855
COL7A1
0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.700 0
dbSNP: rs1555630216
rs1555630216
PIEZO2
0.790 0.160 18 10714931 splice acceptor variant C/T snv
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.700 0
dbSNP: rs1555648288
rs1555648288
PIEZO2
0.790 0.160 18 10795003 splice acceptor variant C/T snv
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.700 0
dbSNP: rs375817528
rs375817528
CAPN1
0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.700 0
dbSNP: rs377274761
rs377274761
GALC
0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.700 0
dbSNP: rs387906905
rs387906905
TRPV4
0.882 0.120 12 109798819 missense variant C/T snv
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.700 0
dbSNP: rs398123640
rs398123640
COL6A1
1.000 0.120 21 45989093 missense variant G/A;C snv
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.700 0