Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs199476315
TPM1
0.827 0.080 15 63061723 missense variant G/A snv 4
rs199476317
TPM1
0.827 0.080 15 63062263 missense variant G/A snv 4
rs267607490
DES
0.925 0.160 2 219425734 missense variant C/T snv 4
rs267607581
LMNA
0.925 0.080 1 156137651 splice region variant C/G snv 4
rs2754158
MYH7
0.882 0.080 14 23424876 missense variant G/A;C;T snv 1.2E-05 4
rs36211715
MYH7
0.851 0.080 14 23424839 missense variant C/A;G;T snv 4.0E-06 4
rs373746463
MYBPC3
0.851 0.080 11 47333189 splice region variant C/A;G;T snv 1.8E-05; 4.4E-06 4
rs387906397
MYBPC3
0.851 0.080 11 47333192 splice donor variant A/C;G snv 4
rs397515905
MYBPC3
0.851 0.080 11 47342719 missense variant G/A;C;T snv 4.0E-06; 8.0E-06 4
rs397515937
MYBPC3
0.851 0.080 11 47339792 splice acceptor variant T/C snv 4
rs397516029
MYBPC3
0.882 0.080 11 47332569 frameshift variant G/-;GG delins 4.0E-06 4
rs397516037
MYBPC3
0.851 0.120 11 47332189 stop gained G/A snv 8.0E-06 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
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
rs121909377
MYBPC3
0.882 0.080 11 47333238 stop gained C/A;T snv 4.8E-06; 1.9E-05 3