Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 43
rs483352822
RIT1
0.776 0.360 1 155904470 stop lost C/A;G;T snv 16
rs1553196101
CDC42
0.925 0.080 1 22086507 missense variant T/C snv 8
rs1553200431
COL11A1
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 8
rs1553196134
CDC42
0.925 0.080 1 22086856 missense variant C/T snv 6
rs1553196096
CDC42
1 22086463 missense variant G/A snv 5
rs773722162
CELSR2
0.882 0.120 1 109272915 inframe insertion -/AGAAGAGGAGGA delins 5.2E-05 4.2E-05 5
rs869312689
ZBTB18
0.925 0.160 1 244053934 missense variant T/C snv 5
rs1553763618
POLR3GL
0.925 0.040 1 145977482 splice acceptor variant G/A snv 4
rs782661984
POLR3GL
0.925 0.040 1 145974824 splice acceptor variant G/A snv 2.3E-05 1.4E-05 4
rs886041300
KCNH1
1.000 0.160 1 210920032 missense variant C/T snv 3
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv 13
rs1553511224
TBR1
0.882 0.080 2 161423825 frameshift variant -/C delins 10
rs369634007
TMEM87B
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05 10
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 9
rs1553538917
SATB2
0.882 0.120 2 199272423 stop gained G/A snv 7
rs202160208
GMPPB
0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04 9
rs397509426
GMPPB
0.882 0.080 3 49723632 missense variant G/A snv 8.0E-05 7.0E-06 7
rs1560092224
ZBTB20
0.925 0.040 3 114339276 missense variant T/A snv 5
rs786205567
IFT122
0.925 0.120 3 129500070 splice donor variant T/C snv 5
rs267607093
SRD5A3
0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06 14
rs886039814
WDR19
0.807 0.200 4 39218060 missense variant C/G snv 13
rs886041097
NAA15
0.882 0.160 4 139386152 stop gained C/G snv 9
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv 13