Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs386134243
LMNA
0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 16
rs397516955
DSP
0.790 0.120 6 7562753 stop gained G/A snv 9
rs150821281
PKP2
0.827 0.080 12 32878461 missense variant G/A snv 2.3E-03 2.5E-03 7
rs397516915
DSP
0.925 0.080 6 7568443 stop gained C/T snv 4.0E-06 6
rs727504443
DSP
0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06 5
rs121434420
PKP2
0.851 0.120 12 32879021 stop gained G/A snv 4.0E-06 4.9E-05 5
rs1173679499
TP63
0.827 0.280 3 189869372 missense variant G/A snv 4.0E-06 5
rs267607499
DES
0.851 0.160 2 219418809 missense variant A/G;T snv 4
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
rs1554108431
DSP
0.882 0.120 6 7581189 stop gained C/T snv 4
rs397516943
DSP
0.882 0.120 6 7559281 stop gained C/G;T snv 8.0E-06 4
rs63750743
TMEM43
0.925 0.080 3 14141665 missense variant C/T snv 4
rs397517404
DSC2
0.925 0.080 18 31086694 missense variant G/A;T snv 1.6E-05 3
rs1057517903
DSP
0.882 0.120 6 7575294 splice acceptor variant G/C snv 3
rs140474226
DSP
0.882 0.120 6 7580370 stop gained C/T snv 3
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
rs28763958
DSP
0.882 0.080 6 7558186 missense variant A/G snv 6.4E-05 2.8E-05 3
rs397516940
DSP
0.882 0.120 6 7580721 stop gained C/T snv 2.0E-05 7.0E-06 3
rs876657638
DSP
0.882 0.120 6 7571554 stop gained C/T snv 3
rs782058451
JUP
0.882 0.120 17 41767386 missense variant T/C snv 2.0E-05 3
rs397517906
LMNA
0.925 0.080 1 156134890 missense variant C/T snv 8.0E-06 3
rs121913653
MYH7
0.925 0.160 14 23429040 missense variant G/A snv 2.3E-04 7.0E-05 3
rs111517471
PKP2
0.925 0.080 12 32796108 splice donor variant C/A;G;T snv 2.8E-05 3