Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs766265889
TTN-AS1 ; TTN
0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06 11
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 10
rs397516955
DSP
0.790 0.120 6 7562753 stop gained G/A snv 9
rs111033560
PLN ; CEP85L
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 7
rs574660186
TTN ; TTN-AS1
0.807 0.200 2 178579702 stop gained G/A;C snv 1.6E-05 3.5E-05 7
rs397517689
TTN-AS1 ; TTN
0.882 0.160 2 178574530 stop gained G/A snv 4.0E-06 5
rs1114167453
PPP1R13L
1.000 19 45385569 stop gained G/C snv 4
rs1554093433
NKX2-5
0.925 0.080 5 173232833 stop gained G/T snv 4
rs1554108012
DSP
0.882 0.120 6 7579323 stop gained C/T snv 4
rs1554108431
DSP
0.882 0.120 6 7581189 stop gained C/T snv 4
rs1557315928
DMD
X 32380517 stop gained C/T snv 4
rs397516943
DSP
0.882 0.120 6 7559281 stop gained C/G;T snv 8.0E-06 4
rs60682848
LMNA
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 4
rs72646846
TTN ; TTN-AS1
0.925 0.160 2 178589849 stop gained G/A snv 7.6E-05 6.3E-05 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
rs869248137
BAG3
0.882 0.120 10 119676479 stop gained C/A;T snv 4.0E-06 4
rs104894655
TCAP
0.925 0.120 17 39665762 stop gained C/T snv 1.4E-05 3
rs121912997
DSP
0.925 0.160 6 7579989 stop gained C/G;T snv 3
rs150974575
DES
1.000 0.160 2 219423817 stop gained C/T snv 1.2E-05 3
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
rs387906875
BAG3
0.925 0.080 10 119670037 stop gained C/T snv 8.0E-06 3
rs557312035
TTN ; TTN-AS1
0.925 0.160 2 178564811 stop gained G/A;C;T snv 8.1E-06 3
rs56816490
LMNA
0.925 0.120 1 156135913 stop gained G/A;T snv 3