Disease: Paresis
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs35049558
MYL2
0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 8
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 17
rs121912443
SOD1
0.732 0.160 21 31663857 missense variant A/G snv 15
rs121918075
TTR
0.752 0.280 18 31598632 missense variant A/G snv 15
rs397514677
STIM1
0.851 0.400 11 4023928 missense variant A/G snv 6
rs57983345
LMNA
0.851 0.160 1 156115034 missense variant A/G snv 6
rs750174047
DNAH8
1.000 0.080 6 38722964 missense variant A/T snv 8.2E-06 3
rs1373219981
ATP13A2
1 17011736 start lost C/A snv 1.3E-05 2
rs104894369
MYL2
0.807 0.080 12 110914287 missense variant C/A;T snv 10
rs121908893
SLC22A5
1.000 0.160 5 132385435 stop gained C/A;T snv 5.3E-04; 1.2E-04 3
rs142000963
LMNA
0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 8
rs764959600
PLA2G6
1.000 0.040 22 38169424 start lost C/A;T snv 4.0E-06 3
rs80356624
KCNJ11
0.752 0.240 11 17387490 missense variant C/A;T snv 16
rs1405183655
FA2H
16 74719132 missense variant C/G;T snv 4.0E-06 2
rs757725417
IMMT
2 86144399 missense variant C/G;T snv 4.0E-06; 4.0E-06 3
rs117184249
SYNE1
1.000 0.120 6 152401278 missense variant C/T snv 9.3E-04 4.0E-04 3
rs121434589
MYH2 ; MYHAS
0.851 0.200 17 10535137 missense variant C/T snv 8
rs121908211
CACNA1A
0.882 0.080 19 13371744 missense variant C/T snv 5
rs121913003
DES
0.882 0.200 2 219421532 missense variant C/T snv 6
rs137853306
TPM2
0.882 0.080 9 35689265 missense variant C/T snv 6
rs199474714
TPM3
0.925 0.080 1 154173113 missense variant C/T snv 4
rs369447743
DCAF17 ; METTL8
2 171434679 synonymous variant C/T snv 7.4E-04 7.7E-05 2
rs75586164
SMN2
0.925 0.080 5 70070651 missense variant C/T snv 1.3E-04 4
rs80356616
KCNJ11
0.732 0.360 11 17387917 missense variant C/T snv 19
rs794728448
KCNH2
0.724 0.280 7 150948445 frameshift variant CT/G delins 17