Disease: Cardiomyopathy, Familial Idiopathic
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
rs1801253
ADRB1
0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 34
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs2234962
BAG3
1.000 0.040 10 119670121 missense variant T/C snv 0.17 0.15 3
rs397516881
BAG3
0.827 0.120 10 119676917 missense variant G/A snv 7
rs535039125
CYP2B6
0.851 0.040 19 41004380 missense variant C/T snv 1.1E-04 1.3E-04 5
rs121913002
DES
0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04 7
rs1368507241
DES
1.000 0.040 2 219420613 missense variant C/T snv 7.0E-06 2
rs397516695
DES
0.882 0.040 2 219418869 missense variant T/A;C snv 5.5E-05 4
rs867770797
EDNRA
0.851 0.200 4 147519875 missense variant G/A snv 8
rs1553974835
HAND2-AS1 ; HAND2
1.000 0.040 4 173529091 stop gained C/A snv 2
rs1739843
HSPB7
0.882 0.040 1 16016759 intron variant T/C snv 0.62 4
rs138592977
LMNA
1.000 0.040 1 156135968 missense variant G/A snv 5.6E-05 6.3E-05 3
rs1553265736
LMNA
0.925 0.040 1 156136080 missense variant G/C snv 4
rs267607578
LMNA
0.925 0.120 1 156136952 missense variant G/A;C snv 1.4E-05 3
rs267607581
LMNA
0.925 0.080 1 156137651 splice region variant C/G snv 4
rs28933090
LMNA
0.925 0.160 1 156115172 missense variant T/A;G snv 3
rs28933091
LMNA
0.882 0.160 1 156134474 missense variant C/A;G snv 4
rs28933092
LMNA
1.000 0.040 1 156134497 missense variant A/G;T snv 2
rs28933093
LMNA
0.882 0.160 1 156130741 missense variant G/A snv 5
rs386134243
LMNA
0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 16
rs397517889
LMNA
0.925 0.120 1 156136093 missense variant C/T snv 7.0E-06 3
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