Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 30
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 29
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 28
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs1555206402
HMBS
0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 26
rs1555257073
POMP
0.827 0.120 13 28672407 frameshift variant AT/- delins 25
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv 23
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 22
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 20
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant 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
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
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs587784105
NSD1
0.732 0.440 5 177235863 stop gained G/A snv 19
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins 19
rs1555565492
RAI1
0.776 0.160 17 17795417 frameshift variant -/G delins 18
rs1566823361
FGF14
0.742 0.440 13 101726732 frameshift variant -/G delins 18