Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs386134243
LMNA
0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 16
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 10
rs727503166
MYBPC3
0.851 0.080 11 47332110 frameshift variant T/- del 5
rs1566535410
MYH7
0.851 0.080 14 23429297 missense variant T/C snv 5
rs606231324
MYH7
0.851 0.080 14 23428505 missense variant C/G;T snv 5
rs573916965
MYBPC3
0.827 0.080 11 47346297 stop gained C/A;T snv 2.5E-04 4
rs397516089
MYH7
0.827 0.080 14 23429807 missense variant C/G;T snv 4
rs730880336
MYBPC3
0.925 0.040 11 47346254 frameshift variant -/TGCCG delins 4.0E-06 3
rs727503269
MYH7
0.882 0.040 14 23429329 missense variant T/C snv 3
rs730880850
MYH7
0.882 0.040 14 23431584 splice donor variant C/T snv 4.0E-06 3
rs7626962
SCN5A
0.790 0.080 3 38579416 missense variant G/A;T snv 1.6E-05; 5.9E-03 3
rs397517071
ACTC1 ; LOC101928174
1.000 0.040 15 34792092 missense variant A/G snv 2
rs727504379
ACTC1 ; LOC101928174
1.000 0.040 15 34791238 missense variant A/G snv 2
rs397516190
MIR208B ; MYH7
0.925 0.080 14 23419911 inframe deletion CCT/- delins 2
rs727503741
VCL
1.000 0.040 10 74114349 stop gained C/T snv 2
rs104894941
DNASE1L1 ; TAZ
0.925 0.120 X 154412129 stop gained C/G snv 1
rs201583907
LMNA
0.925 0.040 1 156137191 missense variant G/A;C snv 8.6E-05 1
rs727503249
MIR208B ; MYH7
1.000 0.040 14 23419588 missense variant G/A;C snv 1
rs730880856
MYH7
1.000 0.040 14 23430954 missense variant C/G;T snv 1