Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587782958
MYBPC3
0.790 0.120 11 47333552 splice region variant C/T snv 1.7E-05 10
rs1554093433
NKX2-5
0.925 0.080 5 173232833 stop gained G/T snv 4
rs1553707780
TTN-AS1 ; TTN
0.925 0.040 2 178616928 frameshift variant T/- del 4
rs1057518968
DTNA
1.000 0.040 18 34794065 missense variant A/G snv 8.0E-06 2.1E-05 2
rs1553915256
TTN-AS1 ; TTN
1.000 0.040 2 178725367 splice donor variant C/T snv 1