Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1030380990
PKP2
1.000 0.080 12 32878926 missense variant C/T snv 1
rs1057517903
DSP
0.882 0.120 6 7575294 splice acceptor variant G/C snv 3
rs111517471
PKP2
0.925 0.080 12 32796108 splice donor variant C/A;G;T snv 2.8E-05 3
rs1173679499
TP63
0.827 0.280 3 189869372 missense variant G/A snv 4.0E-06 5
rs121434420
PKP2
0.851 0.120 12 32879021 stop gained G/A snv 4.0E-06 4.9E-05 5
rs121434421
PKP2
0.925 0.080 12 32802499 stop gained G/A;C snv 4.0E-06; 4.0E-06; 1.6E-05 2
rs121913006
DSG2
0.925 0.080 18 31519867 missense variant G/A snv 4.0E-06 2
rs121913008
DSG2
0.925 0.080 18 31519858 missense variant G/A snv 7.0E-06 2
rs121913010
DSG2 ; DSG2-AS1
0.925 0.080 18 31545820 missense variant G/A;C;T snv 2.4E-05; 1.2E-05 2
rs121913653
MYH7
0.925 0.160 14 23429040 missense variant G/A snv 2.3E-04 7.0E-05 3
rs1238227166
DSP
1.000 0.080 6 7565500 stop gained C/G;T snv 4.0E-06 1
rs1371251333
DSP
1.000 0.080 6 7568578 missense variant A/G snv 1
rs1400593451
DES
1.000 0.080 2 219418827 missense variant A/G;T snv 5.0E-06 1
rs140474226
DSP
0.882 0.120 6 7580370 stop gained C/T snv 3
rs144601090
PKP2
0.925 0.080 12 32821439 missense variant A/G snv 1.6E-05 1.1E-04 2
rs145476705
DSC2
0.925 0.080 18 31087781 stop gained A/G;T snv 4.0E-06; 4.0E-06 2
rs149930872
PKP2
1.000 0.080 12 32843224 missense variant G/A;T snv 4.2E-04; 4.3E-06 1
rs150339369
DSP
1.000 0.080 6 7574781 missense variant C/A;T snv 3.0E-04 2.0E-04 1
rs150821281
PKP2
0.827 0.080 12 32878461 missense variant G/A snv 2.3E-03 2.5E-03 7
rs1554105614
DSP
1.000 0.080 6 7555773 stop gained C/T snv 2
rs1554108012
DSP
0.882 0.120 6 7579323 stop gained C/T snv 4
rs1554108152
DSP
0.882 0.120 6 7579922 frameshift variant -/AAATCGA delins 4
rs1554108287
DSP
0.925 0.080 6 7580495 frameshift variant CACTG/- del 3
rs1554108410
DSP
0.882 0.120 6 7581072 frameshift variant AGGAG/TTCT delins 3
rs1554108431
DSP
0.882 0.120 6 7581189 stop gained C/T snv 4