Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1566823361
FGF14
0.742 0.440 13 101726732 frameshift variant -/G delins 18
rs1562134961
IRAK1BP1 ; PHIP
0.776 0.320 6 78969879 frameshift variant A/- delins 13
rs1553329427
SRD5A2
0.851 0.200 2 31580683 frameshift variant A/- del 4
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 46
rs1557569831
SZT2
0.925 0.120 1 43431458 splice acceptor variant A/G snv 8
rs797045005
TUBA1A
0.851 0.320 12 49185140 missense variant A/G snv 4
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv 10
rs1565295267
MYRF ; TMEM258
0.827 0.360 11 61774051 missense variant C/A snv 6
rs1568303086
TCF4
0.882 0.320 18 55228877 missense variant C/A snv 5
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 15
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs1554199368
NSD1
0.827 0.160 5 177256956 missense variant C/T snv 12
rs1554846212
DUPD1 ; KAT6B
0.851 0.160 10 75030037 missense variant C/T snv 9
rs387906692
FAM20A ; PRKAR1A
0.752 0.480 17 68530405 stop gained C/T snv 8
rs1480612338
LOC105369759 ; DHH
0.851 0.160 12 49090416 missense variant C/T snv 4.3E-06 4
rs869312712
ARID1B
0.925 0.360 6 157084866 stop gained C/T snv 3
rs121912556
INSL3
1.000 0.120 19 17816945 missense variant C/T snv 6.9E-04 2.7E-04 1
rs1057518944
NIPBL
0.807 0.280 5 36984990 frameshift variant CT/- delins 9
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs587784105
NSD1
0.732 0.440 5 177235863 stop gained G/A snv 19
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 19
rs1057516033
KAT6B
0.807 0.400 10 75025250 splice donor variant G/A snv 9