Disease: Cardiomyopathy, Familial Idiopathic
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397516695
DES
0.882 0.040 2 219418869 missense variant T/A;C snv 5.5E-05 4
rs397516881
BAG3
0.827 0.120 10 119676917 missense variant G/A snv 7
rs45546039
SCN5A
0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 15
rs56816490
LMNA
0.925 0.120 1 156135913 stop gained G/A;T snv 4
rs56984562
LMNA
0.827 0.200 1 156137666 missense variant C/A;G;T snv 6
rs57045855
LMNA
0.882 0.040 1 156134464 missense variant A/G;T snv 6
rs58034145
LMNA
0.827 0.160 1 156134830 missense variant A/C snv 10
rs59301204
LMNA
0.925 0.080 1 156135956 missense variant G/A;C snv 1.2E-05 4
rs61195471
LMNA
0.827 0.160 1 156134496 missense variant G/A snv 6
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
rs730881071
TNNI3
1.000 0.040 19 55154158 missense variant G/A snv 8.0E-06 2
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
rs746503158
MTG1
1.000 0.040 10 133420125 missense variant A/G;T snv 8.0E-06; 4.0E-06 3
rs758264780
TPM1
0.882 0.040 15 63044029 frameshift variant G/- delins 4
rs761056344
PLN ; CEP85L
0.925 0.080 6 118558994 missense variant C/G;T snv 4.0E-06; 3.2E-05 3
rs867770797
EDNRA
0.851 0.200 4 147519875 missense variant G/A snv 8
rs60682848
LMNA
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 11
rs59026483
LMNA
0.827 0.160 1 156134457 missense variant C/T snv 7.0E-06 7
rs397517889
LMNA
0.925 0.120 1 156136093 missense variant C/T snv 7.0E-06 3
rs121917776
VCL
0.882 0.040 10 74112086 missense variant C/T snv 9.9E-05 7.0E-06 5
rs1368507241
DES
1.000 0.040 2 219420613 missense variant C/T snv 7.0E-06 2
rs267607578
LMNA
0.925 0.120 1 156136952 missense variant G/A;C snv 1.4E-05 3
rs138592977
LMNA
1.000 0.040 1 156135968 missense variant G/A snv 5.6E-05 6.3E-05 3