Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs756433029
LOC101927055 ; TTN-AS1 ; TTN
2 178777235 frameshift variant TTTCA/- delins 8.0E-06 1.4E-05 1
rs397517698
TTN ; LOC101927055 ; TTN-AS1
2 178775030 frameshift variant TTCT/- delins 1
rs869025559
TTN ; TTN-AS1
2 178562342 frameshift variant TT/- del 1
rs727503559
TTN ; TTN-AS1
1.000 0.040 2 178565120 frameshift variant TGGCAGCCACCAGTAT/- delins 2
rs727504825
TTN ; TTN-AS1
2 178614082 frameshift variant TGAACTGGTTCACCAACACC/- delins 1
rs727504394
TAZ
1.000 0.120 X 154420666 frameshift variant TG/- delins 2
rs869312038
TTN ; TTN-AS1
2 178740589 frameshift variant TG/- delins 7.0E-06 1
rs727503546
TTN-AS1 ; TTN
2 178547178 frameshift variant TCTT/- delins 1
rs730880246
TTN ; TTN-AS1
2 178533013 frameshift variant TCTC/- delins 1
rs111033560
PLN ; CEP85L
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 7
rs143139258
MYL2
0.882 0.080 12 110913097 missense variant T/G snv 2.0E-04 2.9E-04 4
rs397516364
TPM1
0.925 0.080 15 63042852 missense variant T/G snv 1
rs6716782
TTN-AS1 ; TTN
2 178706956 splice acceptor variant T/G snv 1.3E-04 5.9E-04 1
rs869025398
DSP
6 7567451 splice donor variant T/G snv 1
rs730880140
MYBPC3
1.000 0.080 11 47333297 missense variant T/C snv 7.0E-06 2
rs199476310
TPM1
15 63057019 missense variant T/C snv 1
rs267607593
LMNA
1 156134964 missense variant T/C snv 1
rs267607594
LMNA
0.925 0.120 1 156130745 missense variant T/C snv 1
rs397517886
LMNA
1 156136070 missense variant T/C snv 1
rs730880132
LMNA
1 156134875 missense variant T/C snv 1
rs869025548
TTN ; TTN-AS1
2 178620627 splice acceptor variant T/C snv 1
rs869025549
TTN ; TTN-AS1
2 178583229 splice acceptor variant T/C snv 1
rs869025550
TTN ; TTN-AS1
2 178579395 splice acceptor variant T/C snv 1
rs876657667
TTN-AS1 ; TTN
2 178586809 splice acceptor variant T/C snv 1
rs28933090
LMNA
0.925 0.160 1 156115172 missense variant T/A;G snv 1