Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs727505319
TTN ; TTN-AS1
0.925 0.160 2 178542263 splice donor variant C/G;T snv 4.2E-06 4
rs727502886
ACTN2
0.925 0.040 1 236719007 missense variant G/A snv 3
rs387906875
BAG3
0.925 0.080 10 119670037 stop gained C/T snv 8.0E-06 3
rs397516881
BAG3
0.827 0.120 10 119676917 missense variant G/A snv 3
rs876657634
BAG3
0.925 0.080 10 119672477 stop gained C/T snv 3
rs150974575
DES
1.000 0.160 2 219423817 stop gained C/T snv 1.2E-05 3
rs121912997
DSP
0.925 0.160 6 7579989 stop gained C/G;T snv 3
rs1554108287
DSP
0.925 0.080 6 7580495 frameshift variant CACTG/- del 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
rs397517889
LMNA
0.925 0.120 1 156136093 missense variant C/T snv 7.0E-06 3
rs397517906
LMNA
0.925 0.080 1 156134890 missense variant C/T snv 8.0E-06 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
rs57508089
LMNA
1.000 0.080 1 156136110 synonymous variant C/T snv 3
rs61195471
LMNA
0.827 0.160 1 156134496 missense variant G/A snv 3
rs794728602
LMNA
1.000 0.040 1 156115168 missense variant G/A snv 3
rs121913647
MHRT ; MYH7
0.925 0.160 14 23417173 missense variant C/A;G;T snv 1.6E-05 3
rs45544633
MHRT ; MYH7
1.000 0.080 14 23417174 missense variant G/A snv 3
rs397516028
MYBPC3
1.000 0.080 11 47332594 missense variant A/G snv 3
rs121913627
MYH7
0.851 0.080 14 23427657 missense variant C/A;G;T snv 4.0E-06 3
rs121913630
MYH7
0.851 0.080 14 23425814 missense variant G/A;C snv 1.2E-05 3
rs121913642
MYH7
0.925 0.080 14 23427879 missense variant A/G snv 3
rs397516142
MYH7
1.000 0.080 14 23425357 missense variant C/A;G;T snv 8.0E-06; 1.6E-05 3
rs397516254
MYH7 ; MHRT
0.925 0.160 14 23413809 missense variant C/T snv 3