Disease: Cardiomyopathy, Familial Idiopathic
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs10927875
ZBTB17
1.000 0.040 1 15972817 intron variant C/T snv 0.29 3
rs121917776
VCL
0.882 0.040 10 74112086 missense variant C/T snv 9.9E-05 7.0E-06 5
rs1298494952
TTN
1.000 0.040 2 178789994 missense variant T/C snv 4.0E-06 2
rs267607155
TTN
0.925 0.040 2 178782980 missense variant A/G;T snv 3
rs104894501
TPM1
0.851 0.040 15 63044030 stop gained G/A;C;T snv 4.0E-06 5
rs104894505
TPM1
0.882 0.040 15 63044072 missense variant G/A snv 4
rs1212453165
TPM1
0.925 0.040 15 63043751 missense variant G/A snv 6.8E-06 3
rs199476301
TPM1
0.851 0.040 15 63042874 missense variant G/A;T snv 4.0E-06 6
rs199476314
TPM1
0.882 0.040 15 63060930 missense variant T/G snv 4
rs199476317
TPM1
0.827 0.080 15 63062263 missense variant G/A snv 6
rs758264780
TPM1
0.882 0.040 15 63044029 frameshift variant G/- delins 4
rs727503512
TNNT2
0.851 0.080 1 201363349 missense variant G/A;C;T snv 4.0E-06 5
rs74315379
TNNT2
0.827 0.080 1 201364336 missense variant G/A;T snv 1.2E-04 6
rs74315380
TNNT2
0.851 0.080 1 201364366 missense variant G/A;C snv 5
rs730881071
TNNI3
1.000 0.040 19 55154158 missense variant G/A snv 8.0E-06 2
rs104893823
TNNC1
0.882 0.040 3 52451285 missense variant C/T snv 5
rs1800629
TNF
0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 169
rs1393297693
SRF
1.000 0.040 6 43178806 missense variant G/A snv 4.0E-06 3
rs137854618
SCN5A
0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 15
rs1805124
SCN5A
0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 16
rs41310765
SCN5A
0.882 0.120 3 38575424 missense variant G/A snv 1.4E-04 7.7E-05 5
rs45546039
SCN5A
0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 15
rs1266360671
RYR2
0.925 0.080 1 237270518 missense variant T/C snv 4.7E-06 3
rs397516607
RBM20
0.925 0.040 10 110821356 missense variant G/A snv 4
rs111033559
PLN ; CEP85L
0.925 0.040 6 118558946 missense variant C/T snv 4