Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913378
BRAF
0.776 0.280 7 140753337 missense variant C/A;G;T snv 11
rs1554317931
GLI3
0.851 0.080 7 42045460 frameshift variant G/- delins 11
rs1554496813
KMT2C
0.827 0.160 7 152177839 frameshift variant -/G delins 8
rs121913375
BRAF
0.851 0.240 7 140753339 missense variant G/A;C snv 7
rs727503030
ELN
0.925 0.040 7 74054770 splice donor variant G/A snv 6.0E-05 6.3E-05 6
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 33
rs121918487
FGFR2
0.716 0.440 10 121517378 missense variant C/A;G;T snv 25
rs121918494
FGFR2
0.790 0.160 10 121517363 missense variant G/C snv 25
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs1554846212
DUPD1 ; KAT6B
0.851 0.160 10 75030037 missense variant C/T snv 9
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs1565706229
EED ; MIR6755
0.851 0.120 11 86277110 missense variant T/C snv 18
rs121907922
ELP4 ; PAX6
0.742 0.320 11 31789935 stop gained T/A snv 12
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs121918467
PTPN11
0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 23
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 15
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv 14
rs397507547
PTPN11
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 14
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv 13