Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs543860009
TTN-AS1 ; TTN
0.742 0.320 2 178589003 stop gained G/A;T snv 33
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins 33
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 10
rs760187215
MYH7
1.000 0.040 14 23431859 missense variant C/T snv 8.0E-06 6
rs606231324
MYH7
0.851 0.080 14 23428505 missense variant C/G;T snv 5
rs397516248
MYH7 ; MHRT
0.851 0.200 14 23415153 missense variant C/T snv 5
rs587782927
DSP
0.882 0.080 6 7574084 splice region variant AG/- delins 4
rs1060501439
MYH7
0.925 0.080 14 23424938 missense variant T/A snv 4
rs1559598775
TTN ; TTN-AS1
0.882 0.200 2 178592056 stop gained G/A snv 3
rs794727637
HCN4
0.882 0.120 15 73329719 missense variant C/G;T snv 2
rs775975702
DTNA
0.925 0.120 18 34766039 missense variant A/G snv 4.0E-06 7.0E-06 1
rs587782961
MYH7
1.000 0.040 14 23430936 missense variant T/C snv 1
rs730880199
RYR2
0.925 0.080 1 237819167 missense variant T/G snv 1
rs869025523
SCN5A
1.000 0.040 3 38597813 frameshift variant -/CA delins 1
rs587782986
TTN-AS1 ; TTN
1.000 0.040 2 178580401 frameshift variant TGTT/- delins 4.0E-06 1
rs869025544
TTN-AS1 ; TTN
1.000 0.040 2 178594134 stop gained C/T snv 1