Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518834
DMD
X 32849737 frameshift variant C/- delins 9
rs4363657
SLCO1B1
12 21215788 intron variant T/C snv 0.18 5
rs760361706
PPARA
22 46235326 missense variant G/C snv 4.0E-06 4
rs1057518905
DPM3
1 155140104 missense variant A/T snv 3
rs1555420508
LOC105370794 ; CAPN3
15 42387891 splice region variant G/A snv 3
rs564856283
MYBPC1
12 101642495 missense variant G/A;C snv 3.2E-05 3
rs757725417
IMMT
2 86144399 missense variant C/G;T snv 4.0E-06; 4.0E-06 3
rs371855540
MHRT ; MYH7
14 23415095 missense variant C/T snv 2.0E-05 3.5E-05 2
rs747453853
CHEK2 ; HSCB
22 28742247 missense variant G/A snv 4.0E-06 2
rs1057518773
RYR1
19 38505868 stop gained G/A snv 1
rs1057518851
TTN ; TTN-AS1
2 178571565 stop gained C/T snv 1
rs1057518855
ANO5
11 22270443 splice donor variant -/T delins 1
rs1057518866
DMD
X 32343174 stop gained A/C snv 1
rs10871700 18 72302261 intergenic variant A/G snv 0.72 1
rs10872257 6 122969896 intergenic variant C/T snv 0.44 1
rs11780883 8 83834281 intergenic variant G/A;T snv 0.43 1
rs1198364572
TTN ; TTN-AS1
2 178671132 frameshift variant -/T delins 1
rs1231213195
DES
2 219418473 missense variant C/G snv 4.5E-06 1
rs1243057653
DES
2 219419031 missense variant T/C snv 1
rs1279384333
GNE ; CLTA
9 36222876 missense variant C/T snv 1
rs1337512
EYS
6 64483927 intron variant T/G snv 0.31 1
rs1384689025
GNE ; CLTA
9 36217577 missense variant C/T snv 7.0E-06 1
rs139552940
COL6A2
21 46131981 missense variant G/A snv 5.9E-05 4.2E-05 1
rs140854723
EVC2
4 5634585 intron variant G/A;T snv 1
rs142586585
MYHAS ; MYH2
17 10529418 missense variant G/C snv 2.0E-03 2.2E-03 1