Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518962
DMD
X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06 6
rs1555358382
GCH1
14 54844115 stop gained G/A snv 6
rs1256028809
RTTN
1.000 18 70030114 splice region variant A/T snv 4.0E-06 5
rs760361706
PPARA
22 46235326 missense variant G/C snv 4.0E-06 4
rs1555420508
LOC105370794 ; CAPN3
15 42387891 splice region variant G/A snv 3
rs757725417
IMMT
2 86144399 missense variant C/G;T snv 4.0E-06; 4.0E-06 3
rs1057518805
SYT2 ; LOC105371686
1 202596928 inframe deletion ATAGTC/- delins 2
rs1356874787
PANK2 ; PANK2-AS1
20 3889103 start lost G/A snv 6.7E-06 2
rs1373219981
ATP13A2
1 17011736 start lost C/A snv 1.3E-05 2
rs1405183655
FA2H
16 74719132 missense variant C/G;T snv 4.0E-06 2
rs201573646
MAD2L1BP
6 43640526 missense variant G/A snv 1.0E-04 1.4E-05 2
rs369447743
DCAF17 ; METTL8
2 171434679 synonymous variant C/T snv 7.4E-04 7.7E-05 2
rs746673818
COASY
17 42562625 start lost G/A snv 2
rs764492939
COASY
17 42562414 start lost G/A snv 1.6E-05 2.1E-05 2
rs35049558
MYL2
0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 8
rs1057518957
CHRND
1.000 0.040 2 232535143 missense variant G/T snv 4
rs1057518958
CHRND
1.000 0.040 2 232531353 frameshift variant T/- del 4
rs764959600
PLA2G6
1.000 0.040 22 38169424 start lost C/A;T snv 4.0E-06 3
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del 14
rs104894369
MYL2
0.807 0.080 12 110914287 missense variant C/A;T snv 10
rs137853306
TPM2
0.882 0.080 9 35689265 missense variant C/T snv 6
rs121908211
CACNA1A
0.882 0.080 19 13371744 missense variant C/T snv 5
rs1373863123
ACTB
1.000 0.080 7 5529540 missense variant G/A snv 4
rs199474714
TPM3
0.925 0.080 1 154173113 missense variant C/T snv 4
rs75586164
SMN2
0.925 0.080 5 70070651 missense variant C/T snv 1.3E-04 4