Disease: Hypertrophic Cardiomyopathy
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913628
MYH7
0.763 0.160 14 23424059 missense variant C/G;T snv 10
rs3218713
MYH7
0.763 0.160 14 23431468 missense variant C/A;T snv 10
rs111033560
PLN ; CEP85L
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 7
rs193922680
ACTC1 ; LOC101928174
0.790 0.080 15 34793398 missense variant C/T snv 4.0E-06 7.0E-06 7
rs397516354
TNNI3
0.790 0.120 19 55154094 missense variant C/A;G;T snv 4.0E-05 7
rs121908987
PRKAG2
0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06 6
rs397516059
MYBPC3
0.851 0.080 11 47349876 frameshift variant -/A delins 8.2E-06 5
rs727503166
MYBPC3
0.851 0.080 11 47332110 frameshift variant T/- del 5
rs727503204
MYBPC3
0.882 0.080 11 47343020 splice donor variant C/G;T snv 5
rs104894727
TNNI3
0.882 0.080 19 55151881 missense variant C/A;T snv 4.0E-06 4
rs148808089
MYH7
0.882 0.080 14 23429038 missense variant G/A snv 2.0E-05 1.4E-05 4
rs199474703
MYL3
0.851 0.120 3 46860702 missense variant C/T snv 8.0E-06 4
rs397515905
MYBPC3
0.851 0.080 11 47342719 missense variant G/A;C;T snv 4.0E-06; 8.0E-06 4
rs397516029
MYBPC3
0.882 0.080 11 47332569 frameshift variant G/-;GG delins 4.0E-06 4
rs397516269
MYH7
0.882 0.080 14 23431426 missense variant A/G snv 4.0E-06 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
rs199473684
GLA ; RPL36A-HNRNPH2
0.925 0.160 X 101399747 3 prime UTR variant C/T snv 3
rs397515889
MYBPC3
0.925 0.080 11 47343547 frameshift variant G/-;GG delins 3
rs397515903
MYBPC3
0.925 0.080 11 47342745 splice acceptor variant C/G;T snv 4.0E-06 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
rs397515973
MYBPC3
0.925 0.080 11 47337455 frameshift variant ACGCG/- delins 3
rs397516049
MYBPC3
0.925 0.080 11 47350082 frameshift variant -/T delins 3.0E-05 7.0E-06 3