Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs267607155
TTN
0.925 0.040 2 178782980 missense variant A/G;T snv 2
rs267607483
DES
1.000 0.160 2 219420349 splice region variant A/G;T snv 2
rs267607495
DES
2 219418497 missense variant C/T snv 2
rs267607554
LMNA
1.000 0.080 1 156135925 stop gained C/T snv 2
rs267607573
LMNA
1.000 0.080 1 156134865 stop gained C/T snv 2
rs267607577
LMNA
1 156136352 frameshift variant GCACGCAC/-;GCACGCACGCAC delins 2
rs267607618
LMNA
1.000 0.080 1 156136350 stop gained C/T snv 2
rs267607646
LMNA
1.000 0.080 1 156115265 frameshift variant -/G delins 2
rs28933092
LMNA
1.000 0.040 1 156134497 missense variant A/G;T snv 2
rs387907218
TAZ
1.000 0.120 X 154420676 missense variant G/A;C snv 2
rs397515947
MYBPC3
1.000 0.040 11 47339376 frameshift variant G/- delins 2
rs397516369
TPM1
1.000 15 63057081 missense variant C/G snv 2
rs397517065
ACTC1 ; LOC101928174
15 34792471 missense variant G/A snv 2
rs397517071
ACTC1 ; LOC101928174
1.000 0.040 15 34792092 missense variant A/G snv 2
rs397517888
LMNA
1.000 0.080 1 156136074 frameshift variant -/TGGA delins 2
rs58013325
LMNA
1.000 0.080 1 156137144 frameshift variant -/C delins 2
rs59026483
LMNA
0.827 0.160 1 156134457 missense variant C/T snv 7.0E-06 2
rs59270054
LMNA
0.925 0.120 1 156115162 missense variant G/A;C snv 2
rs61046466
LMNA
1.000 0.120 1 156114934 stop gained C/T snv 2
rs61444459
LMNA
0.851 0.160 1 156137667 missense variant G/A;C snv 2
rs62636495
DES
0.925 0.200 2 219418500 missense variant C/A;T snv 2
rs63750743
TMEM43
0.925 0.080 3 14141665 missense variant C/T snv 2
rs727503000
DSP
1.000 0.080 6 7579663 frameshift variant -/A delins 2
rs727503001
DSP
1.000 0.080 6 7579820 stop gained T/A snv 2
rs727503003
DSP
1.000 0.080 6 7581012 frameshift variant -/A delins 2