Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 20
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins 19
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv 19
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 19
rs1558373252
LINC01248 ; SOX11
0.790 0.120 2 5693013 frameshift variant T/- delins 19
rs587784105
NSD1
0.732 0.440 5 177235863 stop gained G/A snv 19
rs1566823361
FGF14
0.742 0.440 13 101726732 frameshift variant -/G delins 18
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv 18
rs1555565492
RAI1
0.776 0.160 17 17795417 frameshift variant -/G delins 18
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv 17
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv 17
rs1561273261
DIMT1 ; KIF2A
0.790 0.160 5 62361307 missense variant G/A snv 17
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs1202430946
IGHMBP2
0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05 17
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 17
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 17
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 16
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 16
rs1555640521
LAMA1
0.790 0.320 18 6942110 frameshift variant A/- delins 15
rs724159949
LOC105372797 ; DYRK1A
0.827 0.240 21 37486563 stop gained C/T snv 15
rs1064797102
OTUD6B-AS1 ; OTUD6B
0.827 0.120 8 91071136 splice acceptor variant A/G snv 15