Disease: Cardiomyopathy, Familial Idiopathic
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs41310765
SCN5A
0.882 0.120 3 38575424 missense variant G/A snv 1.4E-04 7.7E-05 5
rs535039125
CYP2B6
0.851 0.040 19 41004380 missense variant C/T snv 1.1E-04 1.3E-04 5
rs61444459
LMNA
0.851 0.160 1 156137667 missense variant G/A;C snv 5
rs727503512
TNNT2
0.851 0.080 1 201363349 missense variant G/A;C;T snv 4.0E-06 5
rs74315380
TNNT2
0.851 0.080 1 201364366 missense variant G/A;C snv 5
rs104894505
TPM1
0.882 0.040 15 63044072 missense variant G/A snv 4
rs111033559
PLN ; CEP85L
0.925 0.040 6 118558946 missense variant C/T snv 4
rs1553265736
LMNA
0.925 0.040 1 156136080 missense variant G/C snv 4
rs1739843
HSPB7
0.882 0.040 1 16016759 intron variant T/C snv 0.62 4
rs199476314
TPM1
0.882 0.040 15 63060930 missense variant T/G snv 4
rs267607581
LMNA
0.925 0.080 1 156137651 splice region variant C/G snv 4
rs28933091
LMNA
0.882 0.160 1 156134474 missense variant C/A;G snv 4
rs397516607
RBM20
0.925 0.040 10 110821356 missense variant G/A snv 4
rs397516695
DES
0.882 0.040 2 219418869 missense variant T/A;C snv 5.5E-05 4
rs56816490
LMNA
0.925 0.120 1 156135913 stop gained G/A;T snv 4
rs59301204
LMNA
0.925 0.080 1 156135956 missense variant G/A;C snv 1.2E-05 4
rs758264780
TPM1
0.882 0.040 15 63044029 frameshift variant G/- delins 4
rs10927875
ZBTB17
1.000 0.040 1 15972817 intron variant C/T snv 0.29 3
rs1212453165
TPM1
0.925 0.040 15 63043751 missense variant G/A snv 6.8E-06 3
rs1266360671
RYR2
0.925 0.080 1 237270518 missense variant T/C snv 4.7E-06 3
rs138592977
LMNA
1.000 0.040 1 156135968 missense variant G/A snv 5.6E-05 6.3E-05 3
rs1393297693
SRF
1.000 0.040 6 43178806 missense variant G/A snv 4.0E-06 3
rs146275785
NEBL
0.925 0.040 10 20828531 missense variant G/A;T snv 7.2E-05; 2.7E-04 3
rs2234962
BAG3
1.000 0.040 10 119670121 missense variant T/C snv 0.17 0.15 3
rs267607155
TTN
0.925 0.040 2 178782980 missense variant A/G;T snv 3