Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894369
MYL2
0.807 0.080 12 110914287 missense variant C/A;T snv 10
rs1057518805
SYT2 ; LOC105371686
1 202596928 inframe deletion ATAGTC/- delins 2
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
rs1057518962
DMD
X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06 6
rs1064795559
MORC2
0.752 0.320 22 30946373 missense variant G/A snv 29
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del 14
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 15
rs113994099
POLG
0.827 0.240 15 89320883 missense variant T/C snv 10
rs117184249
SYNE1
1.000 0.120 6 152401278 missense variant C/T snv 9.3E-04 4.0E-04 3
rs118192170
RYR1
0.882 0.120 19 38584989 missense variant T/A;C snv 6
rs121434589
MYH2 ; MYHAS
0.851 0.200 17 10535137 missense variant C/T snv 8
rs1217391623
SPG7
0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 11
rs121908211
CACNA1A
0.882 0.080 19 13371744 missense variant C/T snv 5
rs121908552
SCN4A ; LOC105371858
0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06 14
rs121908893
SLC22A5
1.000 0.160 5 132385435 stop gained C/A;T snv 5.3E-04; 1.2E-04 3
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 58
rs121912443
SOD1
0.732 0.160 21 31663857 missense variant A/G snv 15
rs121913003
DES
0.882 0.200 2 219421532 missense variant C/T snv 6
rs121918075
TTR
0.752 0.280 18 31598632 missense variant A/G snv 15
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs1256028809
RTTN
1.000 18 70030114 splice region variant A/T snv 4.0E-06 5
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
rs1373863123
ACTB
1.000 0.080 7 5529540 missense variant G/A snv 4