Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587782927
DSP
0.882 0.080 6 7574084 splice region variant AG/- delins 4
rs60682848
LMNA
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 4
rs727503607
TTN-AS1 ; TTN
0.882 0.160 2 178605642 stop gained C/A snv 4
rs74315380
TNNT2
0.851 0.080 1 201364366 missense variant G/A;C snv 4
rs104894655
TCAP
0.925 0.120 17 39665762 stop gained C/T snv 1.4E-05 3
rs111033559
PLN ; CEP85L
0.925 0.040 6 118558946 missense variant C/T snv 3
rs121912997
DSP
0.925 0.160 6 7579989 stop gained C/G;T snv 3
rs121913642
MYH7
0.925 0.080 14 23427879 missense variant A/G snv 3
rs1554108287
DSP
0.925 0.080 6 7580495 frameshift variant CACTG/- del 3
rs1557194525
TAZ
1.000 0.120 X 154420961 frameshift variant C/- del 3
rs1559415567
TTN ; TTN-AS1
0.925 0.160 2 178572564 frameshift variant G/- delins 3
rs267607003
RBM20
0.925 0.040 10 110812310 missense variant C/A;G;T snv 3
rs267607578
LMNA
0.925 0.120 1 156136952 missense variant G/A;C snv 1.4E-05 3
rs28933093
LMNA
0.882 0.160 1 156130741 missense variant G/A snv 3
rs397516028
MYBPC3
1.000 0.080 11 47332594 missense variant A/G snv 3
rs397516254
MYH7 ; MHRT
0.925 0.160 14 23413809 missense variant C/T snv 3
rs397516607
RBM20
0.925 0.040 10 110821356 missense variant G/A snv 3
rs397516881
BAG3
0.827 0.120 10 119676917 missense variant G/A snv 3
rs397517643
TTN ; TTN-AS1
0.925 0.160 2 178592914 frameshift variant C/- del 3
rs397517696
TTN ; TTN-AS1
0.925 0.160 2 178572287 frameshift variant T/- delins 3
rs397517776
TTN ; TTN-AS1
0.925 0.160 2 178539765 frameshift variant CT/- del 2.1E-05 3
rs397517889
LMNA
0.925 0.120 1 156136093 missense variant C/T snv 7.0E-06 3
rs45544633
MHRT ; MYH7
1.000 0.080 14 23417174 missense variant G/A snv 3
rs56816490
LMNA
0.925 0.120 1 156135913 stop gained G/A;T snv 3
rs56984562
LMNA
0.827 0.200 1 156137666 missense variant C/A;G;T snv 3