Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397517787
TTN ; TTN-AS1
2 178533666 stop gained G/A snv 1
rs397517830
TTN ; TTN-AS1
2 178741025 stop gained C/A;T snv 4.0E-06 1
rs397517909
LMNA
1 156134949 stop gained G/T snv 1
rs72646831
TTN-AS1 ; TTN
2 178597751 stop gained G/A snv 1
rs727503567
TTN-AS1 ; TTN
2 178574811 stop gained C/T snv 1
rs727503598
TTN ; TTN-AS1
2 178601104 stop gained C/T snv 1
rs727503697
TTN ; TTN-AS1 ; LOC101927055
2 178779055 stop gained G/A snv 1
rs727504381
VCL
10 74097222 stop gained C/T snv 1
rs727504498
DSP
6 7570477 stop gained C/T snv 1
rs727504499
TTN-AS1 ; TTN
2 178632294 stop gained G/A snv 1.4E-05 1
rs727504646
TTN-AS1 ; TTN
2 178551055 stop gained A/C snv 1
rs727504679
TTN ; TTN-AS1
2 178539931 stop gained C/A snv 1
rs727504843
TTN ; TTN-AS1
2 178718815 stop gained C/A snv 1
rs727505076
TTN-AS1 ; TTN
2 178551188 stop gained CGC/TCACACCCACTTA delins 1
rs727505224
TTN-AS1 ; TTN
2 178553061 stop gained G/A snv 1
rs727505288
TTN-AS1 ; TTN
2 178563359 stop gained C/T snv 1
rs727505352
TTN ; TTN-AS1
2 178578835 stop gained G/A;T snv 1.5E-04 1
rs730880055
BAG3
10 119676851 stop gained C/T snv 1
rs730880241
TTN ; TTN-AS1
2 178576349 stop gained C/T snv 1
rs730880242
TTN ; TTN-AS1
2 178574632 stop gained G/A snv 1
rs730880243
TTN ; TTN-AS1
2 178558038 stop gained C/A snv 1
rs751039219
TTN ; TTN-AS1
2 178532605 stop gained G/A;T snv 2.0E-05; 4.0E-06 1
rs759231562
TTN-AS1 ; TTN
2 178607114 stop gained C/A;T snv 4.0E-06 1
rs763824247
TTN-AS1 ; TTN
2 178583706 stop gained C/A;T snv 4.0E-06 1
rs764243269
TTN ; TTN-AS1
2 178587708 stop gained G/A;T snv 8.1E-06; 4.0E-06 1