Source: CURATED ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1565930588
rs1565930588
HSPB8
19 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
dbSNP: rs1057516031
rs1057516031
MTM1
3 1.000 0.080 X 150598681 stop gained G/T snv 0.700 1.000 1 2016 2016
dbSNP: rs10871700
rs10871700 		1 18 72302261 intergenic variant A/G snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs10872257
rs10872257 		1 6 122969896 intergenic variant C/T snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs11780883
rs11780883 		1 8 83834281 intergenic variant G/A;T snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs140854723
rs140854723
EVC2
1 4 5634585 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs28447350
rs28447350 		1 13 64923076 intergenic variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs33428
rs33428
ZNF536
1 19 30446936 intron variant A/G snv 0.71 0.700 1.000 1 2019 2019
dbSNP: rs61865606
rs61865606
LOC105378568
1 10 132440647 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs6925743
rs6925743
PPP1R14C
1 6 150170920 intron variant T/A snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs73089338
rs73089338
CDCP1
1 3 45114350 intron variant T/C snv 5.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs77051277
rs77051277
LOC105371433
1 1 150167075 downstream gene variant A/G snv 2.2E-04 0.700 1.000 1 2019 2019
dbSNP: rs1057518773
rs1057518773
RYR1
1 19 38505868 stop gained G/A snv 0.700 0
dbSNP: rs1057518834
rs1057518834
DMD
9 X 32849737 frameshift variant C/- delins 0.700 0
dbSNP: rs1057518851
rs1057518851
TTN ; TTN-AS1
1 2 178571565 stop gained C/T snv 0.700 0
dbSNP: rs1057518855
rs1057518855
ANO5
1 11 22270443 splice donor variant -/T delins 0.700 0
dbSNP: rs1057518866
rs1057518866
DMD
1 X 32343174 stop gained A/C snv 0.700 0
dbSNP: rs1057518905
rs1057518905
DPM3
3 1 155140104 missense variant A/T snv 0.700 0
dbSNP: rs1198364572
rs1198364572
TTN ; TTN-AS1
1 2 178671132 frameshift variant -/T delins 0.700 0
dbSNP: rs121909092
rs121909092
DNM2
4 0.882 0.120 19 10793829 missense variant G/A snv 0.700 0
dbSNP: rs137854521
rs137854521
ANO5
9 0.851 0.200 11 22221100 frameshift variant -/A delins 0.700 0
dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
18 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
dbSNP: rs1555420508
rs1555420508
CAPN3 ; LOC105370794
3 15 42387891 splice region variant G/A snv 0.700 0
dbSNP: rs1555606959
rs1555606959
TCAP
2 1.000 0.120 17 39665391 frameshift variant -/G delins 0.700 0
dbSNP: rs1556425596
rs1556425596
COL6A1
37 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0