Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886039030
MYH7
0.925 0.080 14 23426045 missense variant C/T snv 4.0E-06 2.8E-05 1
rs879254614
LDLR
0.925 0.120 19 11105555 frameshift variant -/T ins 1
rs876657705
MYBPC3
0.925 0.080 11 47335158 frameshift variant A/- del 2
rs876657703
MYBPC3
0.925 0.080 11 47342842 frameshift variant -/C delins 2
rs869025501
RAF1
1.000 0.080 3 12604191 missense variant G/A snv 1
rs869025485
MYL3
1.000 0.080 3 46859573 missense variant C/T snv 1
rs869025477
MYH7
1.000 0.080 14 23429308 missense variant G/A snv 1
rs869025470
MYBPC3
1.000 0.080 11 47332070 splice donor variant A/G snv 1
rs869025469
MYBPC3
1.000 0.080 11 47332975 splice acceptor variant T/G snv 8.4E-06 1
rs869025468
MYBPC3
1.000 0.080 11 47333703 frameshift variant -/C delins 1
rs869025467
MYBPC3
1.000 0.080 11 47341001 splice donor variant A/G snv 1
rs869025466
MYBPC3
1.000 0.080 11 47342157 splice acceptor variant C/T snv 1
rs869025465
MYBPC3
1.000 0.080 11 47343547 frameshift variant AGTTCCACGGTCAGCC/- delins 1
rs869025464
MYBPC3
1.000 0.080 11 47350077 frameshift variant CA/- del 1
rs869025463
MYBPC3
1.000 0.080 11 47350551 frameshift variant T/- delins 1
rs869025462
MYBPC3
1.000 0.080 11 47351381 stop gained GCTGAT/CTCATCA delins 1
rs869025461
MYBPC3
1.000 0.080 11 47333584 stop gained T/A snv 1
rs869025460
MYBPC3
1.000 0.080 11 47339375 frameshift variant T/- del 1
rs869025459
MYBPC3
1.000 0.080 11 47351302 stop gained C/A snv 1
rs869025431
FHL1
0.925 0.160 X 136209946 missense variant G/A;C snv 9.6E-06 2
rs864622197
MYBPC3
0.925 0.080 11 47347065 intron variant C/T snv 2
rs863224483
MYBPC3
0.925 0.080 11 47339653 stop gained G/A snv 2
rs794729138
PLN ; CEP85L
1.000 0.080 6 118558982 frameshift variant -/TC delins 7.0E-06 1
rs778568339
TCAP
0.925 0.080 17 39665382 frameshift variant -/AGGTGTCG delins 9.2E-05 1.4E-05 2
rs775404728
MYBPC3
0.851 0.080 11 47337535 missense variant G/A snv 4.0E-06 2