Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs727503741
VCL
1.000 0.040 10 74114349 stop gained C/T snv 2
rs397517244
VCL
10 74072792 stop gained C/T snv 1.2E-05 1.4E-05 1
rs397517245
VCL
10 74074773 frameshift variant -/A delins 1
rs727503738
VCL
10 74095654 splice acceptor variant A/G snv 1
rs727504381
VCL
10 74097222 stop gained C/T snv 1
rs779488376
VCL
10 74095825 frameshift variant A/- del 4.0E-05 7.0E-06 1
rs781036800
VCL
10 74111991 frameshift variant CT/- del 1.3E-04 1
rs876657674
VCL
10 74074789 frameshift variant -/G delins 1
rs766265889
TTN-AS1 ; TTN
0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06 11
rs397517689
TTN-AS1 ; TTN
0.882 0.160 2 178574530 stop gained G/A snv 4.0E-06 5
rs1553707780
TTN-AS1 ; TTN
0.925 0.040 2 178616928 frameshift variant T/- del 4
rs72648250
TTN-AS1 ; TTN
0.882 0.160 2 178548460 stop gained G/A;T snv 4.0E-06; 8.1E-06 4
rs727503607
TTN-AS1 ; TTN
0.882 0.160 2 178605642 stop gained C/A snv 4
rs371678190
TTN-AS1 ; TTN
1.000 0.040 2 178578066 stop gained G/A;T snv 4.0E-06; 5.6E-05 3
rs373040154
TTN-AS1 ; TTN
0.925 0.160 2 178617388 stop gained G/A;T snv 3.2E-05 3
rs727503565
TTN-AS1 ; TTN
0.925 0.160 2 178574498 frameshift variant T/- delins 3
rs727504531
TTN-AS1 ; TTN
0.925 0.160 2 178573463 frameshift variant A/- del 3
rs727504550
TTN-AS1 ; TTN
0.925 0.160 2 178539537 stop gained C/T snv 3
rs730880365
TTN-AS1 ; TTN
1.000 0.040 2 178549998 frameshift variant -/T delins 8.1E-06 3
rs794729265
TTN-AS1 ; TTN
0.925 0.160 2 178612355 stop gained G/A snv 7.0E-06 3
rs869025545
TTN-AS1 ; TTN
0.925 0.160 2 178566448 stop gained G/A snv 3
rs869312070
TTN-AS1 ; TTN
0.925 0.160 2 178613938 splice acceptor variant C/T snv 4.1E-06 3
rs876657666
TTN-AS1 ; TTN
0.925 0.160 2 178588815 frameshift variant -/G delins 3
rs368200299
TTN-AS1 ; TTN
2 178620285 stop gained G/A;T snv 4.9E-06 2
rs727503602
TTN-AS1 ; TTN
1.000 0.040 2 178604049 stop gained C/T snv 2