Disease: Paresis
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
rs113994099
POLG
0.827 0.240 15 89320883 missense variant T/C snv 10
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
rs121908211
CACNA1A
0.882 0.080 19 13371744 missense variant C/T snv 5
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
rs1373863123
ACTB
1.000 0.080 7 5529540 missense variant G/A snv 4
rs137853305
TPM2
0.851 0.120 9 35685529 missense variant G/A snv 7
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
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
rs61672878
LMNA
0.776 0.200 1 156136094 missense variant G/A;T snv 11
rs746673818
COASY
17 42562625 start lost G/A snv 2
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 17
rs794728228
FBN1
0.925 0.160 15 48468064 stop gained G/A snv 4
rs794728448
KCNH2
0.724 0.280 7 150948445 frameshift variant CT/G delins 17
rs80338957
SCN4A
0.776 0.160 17 63957427 missense variant G/A snv 11
rs80356616
KCNJ11
0.732 0.360 11 17387917 missense variant C/T snv 19
rs80356624
KCNJ11
0.752 0.240 11 17387490 missense variant C/A;T snv 16
rs387906789
VCP
0.742 0.200 9 35065352 missense variant G/A;C snv 4.0E-06 14
rs760361706
PPARA
22 46235326 missense variant G/C snv 4.0E-06 4
rs1405183655
FA2H
16 74719132 missense variant C/G;T snv 4.0E-06 2