Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs727504246
TNNT2
0.827 0.080 1 201363330 missense variant G/A snv 4
rs104894369
MYL2
0.807 0.080 12 110914287 missense variant C/A;T snv 3
rs104894828
RPL36A-HNRNPH2 ; GLA
0.882 0.160 X 101398467 missense variant C/A;T snv 3
rs112738974
MYBPC3
0.882 0.080 11 47338519 splice donor variant C/A;G;T snv 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
rs121913631
MYH7
0.882 0.080 14 23424107 missense variant G/C snv 1.4E-05 3
rs121913632
MYH7
0.882 0.080 14 23425760 missense variant C/A;G;T snv 3
rs121913633
MYH7
0.882 0.080 14 23431447 missense variant C/T snv 7.0E-06 3
rs121913637
MYH7
0.882 0.080 14 23425971 missense variant G/A snv 7.0E-06 3
rs121913638
MYH7
0.851 0.120 14 23425980 missense variant C/T snv 3
rs121913641
MYH7
0.882 0.080 14 23425970 missense variant C/G;T snv 3
rs121913642
MYH7
0.925 0.080 14 23427879 missense variant A/G snv 3
rs193922384
MYBPC3
0.882 0.080 11 47332126 inframe insertion -/CAGACATAGATGCCCCCG delins 2.8E-05 3
rs267606977
PRKAG2
0.851 0.120 7 151560613 missense variant T/C snv 3
rs368765949
MYBPC3
0.882 0.080 11 47332244 stop gained C/A;T snv 7.0E-06 3
rs397515889
MYBPC3
0.925 0.080 11 47343547 frameshift variant G/-;GG delins 3
rs397515897
MYBPC3
0.882 0.080 11 47343019 splice donor variant A/G snv 3
rs397515907
MYBPC3
0.882 0.080 11 47342697 missense variant C/A;T snv 3
rs397515934
MYBPC3
0.925 0.080 11 47341140 frameshift variant A/- del 3
rs397515960
MYBPC3
0.925 0.080 11 47337791 frameshift variant -/C delins 3
rs397515974
MYBPC3
0.882 0.080 11 47337452 stop gained G/A;C;T snv 3
rs397516080
MYBPC3
0.882 0.080 11 47346639 frameshift variant AA/- delins 3