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: rs4149056
rs4149056
SLCO1B1
0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12
CUI: C0026848
Disease: Myopathy
Myopathy 		0.790 1.000 9 2008 2019
dbSNP: rs1565930588
rs1565930588
HSPB8
0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 1.000 3 2016 2018
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 1.000 2 2004 2008
dbSNP: rs1057516031
rs1057516031
MTM1
1.000 0.080 X 150598681 stop gained G/T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 1.000 1 2016 2016
dbSNP: rs10871700
rs10871700 		18 72302261 intergenic variant A/G snv 0.72
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 1.000 1 2019 2019
dbSNP: rs10872257
rs10872257 		6 122969896 intergenic variant C/T snv 0.44
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 1.000 1 2019 2019
dbSNP: rs11780883
rs11780883 		8 83834281 intergenic variant G/A;T snv 0.43
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 1.000 1 2019 2019
dbSNP: rs140854723
rs140854723
EVC2
4 5634585 intron variant G/A;T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 1.000 1 2019 2019
dbSNP: rs28447350
rs28447350 		13 64923076 intergenic variant G/A snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 1.000 1 2019 2019
dbSNP: rs33428
rs33428
ZNF536
19 30446936 intron variant A/G snv 0.71
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 1.000 1 2019 2019
dbSNP: rs61865606
rs61865606
LOC105378568
10 132440647 intron variant T/C;G snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 1.000 1 2019 2019
dbSNP: rs6925743
rs6925743
PPP1R14C
6 150170920 intron variant T/A snv 0.33
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 1.000 1 2019 2019
dbSNP: rs73089338
rs73089338
CDCP1
3 45114350 intron variant T/C snv 5.5E-02
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 1.000 1 2019 2019
dbSNP: rs77051277
rs77051277
LOC105371433
1 150167075 downstream gene variant A/G snv 2.2E-04
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 1.000 1 2019 2019
dbSNP: rs104894294
rs104894294
RAPSN
1.000 11 47447853 missense variant G/A snv 2.0E-05 2.1E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs104894299
rs104894299
RAPSN
0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1057518773
rs1057518773
RYR1
19 38505868 stop gained G/A snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1057518834
rs1057518834
DMD
X 32849737 frameshift variant C/- delins
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1057518851
rs1057518851
TTN ; TTN-AS1
2 178571565 stop gained C/T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1057518855
rs1057518855
ANO5
11 22270443 splice donor variant -/T delins
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1057518866
rs1057518866
DMD
X 32343174 stop gained A/C snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1057518905
rs1057518905
DPM3
1 155140104 missense variant A/T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1057518970
rs1057518970
RYR1
1.000 0.120 19 38448398 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs111033570
rs111033570
TRIM32 ; ASTN2
0.925 0.160 9 116699201 missense variant G/A snv 8.0E-06
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1198364572
rs1198364572
TTN ; TTN-AS1
2 178671132 frameshift variant -/T delins
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0