Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397515937
MYBPC3
0.851 0.080 11 47339792 splice acceptor variant T/C snv 4
rs397515963
MYBPC3
0.851 0.080 11 47337729 frameshift variant -/C delins 2.1E-05 4
rs397515990
MYBPC3
0.851 0.080 11 47335082 frameshift variant AG/- del 7.0E-06 4
rs397516029
MYBPC3
0.882 0.080 11 47332569 frameshift variant G/-;GG delins 4.0E-06 4
rs397516083
MYBPC3
0.851 0.080 11 47346379 intron variant C/T snv 2.1E-05 4
rs397516089
MYH7
0.827 0.080 14 23429807 missense variant C/G;T snv 4
rs397516165
MYH7
0.925 0.080 14 23424118 missense variant C/G;T snv 4
rs397516269
MYH7
0.882 0.080 14 23431426 missense variant A/G snv 4.0E-06 4
rs397516373
TPM1
0.925 0.080 15 63059663 missense variant G/A snv 4
rs573916965
MYBPC3
0.827 0.080 11 47346297 stop gained C/A;T snv 2.5E-04 4
rs727503172
MYBPC3
0.882 0.080 11 47333236 frameshift variant C/- del 4
rs727503203
MYBPC3
0.882 0.080 11 47342929 frameshift variant GG/-;GGG delins 4
rs727503246
MIR208B ; MYH7
0.882 0.080 14 23418313 missense variant C/T snv 7.0E-06 4
rs727503260
MYH7
0.851 0.080 14 23425403 missense variant C/G;T snv 4
rs727504245
TNNT2
0.851 0.080 1 201365261 missense variant G/A snv 1.6E-05 2.1E-05 4
rs727504246
TNNT2
0.827 0.080 1 201363330 missense variant G/A snv 4
rs104893750
MYL3
0.882 0.080 3 46859529 missense variant C/T snv 1.2E-05 1.4E-05 3
rs104894369
MYL2
0.807 0.080 12 110914287 missense variant C/A;T snv 3
rs112738974
MYBPC3
0.882 0.080 11 47338519 splice donor variant C/A;G;T snv 3
rs121909377
MYBPC3
0.882 0.080 11 47333238 stop gained C/A;T snv 4.8E-06; 1.9E-05 3
rs121913624
MYH7
0.851 0.080 14 23429278 missense variant C/A;G;T snv 3
rs121913625
MYH7
0.851 0.080 14 23429005 missense variant G/A;C;T snv 3
rs121913626
MYH7
0.882 0.080 14 23427723 missense variant C/A;G;T snv 4.0E-06 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