Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1559877046
TTN ; TTN-AS1
2 178621183 stop gained T/A;C snv 1
rs397516695
DES
0.882 0.040 2 219418869 missense variant T/A;C snv 5.5E-05 1
rs770029258
TTN-AS1 ; TTN
2 178759167 stop gained T/A;C snv 4.0E-06 1
rs1564664312
RBM20
1.000 0.040 10 110821333 missense variant T/A snv 2
rs727503001
DSP
1.000 0.080 6 7579820 stop gained T/A snv 2
rs1565053147
CSRP3
11 19192403 missense variant T/A snv 1
rs869312075
TTN ; TTN-AS1
2 178576289 frameshift variant T/-;TTTT delins 1
rs1553707780
TTN-AS1 ; TTN
0.925 0.040 2 178616928 frameshift variant T/- del 4
rs397517696
TTN ; TTN-AS1
0.925 0.160 2 178572287 frameshift variant T/- delins 3
rs727503565
TTN-AS1 ; TTN
0.925 0.160 2 178574498 frameshift variant T/- delins 3
rs727504535
TTN ; TTN-AS1
0.925 0.160 2 178538835 frameshift variant T/- delins 4.2E-06 3
rs727504466
TTN-AS1 ; TTN
2 178591326 frameshift variant T/- del 2
rs768079285
NEBL
1.000 0.080 10 20840824 frameshift variant T/- delins 8.0E-06 2
rs794728136
DSP
1.000 0.080 6 7555820 frameshift variant T/- del 2
rs1553691320
TTN-AS1 ; TTN
2 178609440 frameshift variant T/- del 1
rs397516913
DSP
6 7567781 frameshift variant T/- delins 1
rs397517565
TTN-AS1 ; TTN
2 178635714 frameshift variant T/- delins 1
rs397517633
TTN ; TTN-AS1
2 178594499 frameshift variant T/- del 7.0E-06 1
rs397517695
TTN ; TTN-AS1
2 178572305 frameshift variant T/- delins 1
rs397517749
TTN ; TTN-AS1
2 178552313 frameshift variant T/- delins 1
rs58389804
LMNA
1 156136049 frameshift variant T/- delins 1
rs72648265
TTN ; TTN-AS1
2 178544263 frameshift variant T/- delins 1
rs727504557
LAMP2
X 120441824 frameshift variant T/- delins 1
rs869025554
TTN ; TTN-AS1
2 178557413 frameshift variant T/- del 1
rs869312060
TTN ; TTN-AS1
2 178563619 frameshift variant T/- del 1