Disease: Cardiomyopathies
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
rs45546039
SCN5A
0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 15
rs766265889
TTN-AS1 ; TTN
0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06 11
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 10
rs58034145
LMNA
0.827 0.160 1 156134830 missense variant A/C snv 10
rs111033560
PLN ; CEP85L
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 9
rs397516955
DSP
0.790 0.120 6 7562753 stop gained G/A snv 9
rs121913002
DES
0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04 7
rs45586240
TNNT2
0.827 0.080 1 201361989 missense variant G/A;T snv 4.0E-06 7
rs199476301
TPM1
0.851 0.040 15 63042874 missense variant G/A;T snv 4.0E-06 6
rs267607490
DES
0.925 0.160 2 219425734 missense variant C/T snv 6
rs57045855
LMNA
0.882 0.040 1 156134464 missense variant A/G;T snv 6
rs59270054
LMNA
0.925 0.120 1 156115162 missense variant G/A;C snv 6
rs104893823
TNNC1
0.882 0.040 3 52451285 missense variant C/T snv 5
rs121917776
VCL
0.882 0.040 10 74112086 missense variant C/T snv 9.9E-05 7.0E-06 5
rs397517689
TTN-AS1 ; TTN
0.882 0.160 2 178574530 stop gained G/A snv 4.0E-06 5
rs727503204
MYBPC3
0.882 0.080 11 47343020 splice donor variant C/G;T snv 5
rs111033559
PLN ; CEP85L
0.925 0.040 6 118558946 missense variant C/T snv 4
rs1553707780
TTN-AS1 ; TTN
0.925 0.040 2 178616928 frameshift variant T/- del 4
rs200484060
DSG2
1.000 18 31536370 missense variant T/G snv 5.6E-05 1.4E-05 4
rs267607004
RBM20
0.925 0.040 10 110812304 missense variant G/A snv 1.4E-05 4
rs397516165
MYH7
0.925 0.080 14 23424118 missense variant C/G;T snv 4
rs397516373
TPM1
0.925 0.080 15 63059663 missense variant G/A snv 4
rs397516607
RBM20
0.925 0.040 10 110821356 missense variant G/A snv 4