Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs1057516030
LOC105372797 ; DYRK1A
0.807 0.280 21 37480785 stop gained -/A delins 14
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv 14
rs1057519369
NF1
0.790 0.280 17 31340532 frameshift variant -/G delins 13
rs1057519942
PIK3CA
0.724 0.320 3 179203760 missense variant G/A snv 15
rs1057524237
COL11A1
0.851 0.280 1 102915626 splice region variant C/T snv 7
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv 10
rs1213930919
TTN-AS1 ; TTN
0.882 0.120 2 178577785 stop gained G/A snv 9
rs121907922
ELP4 ; PAX6
0.742 0.320 11 31789935 stop gained T/A snv 12
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs121913375
BRAF
0.851 0.240 7 140753339 missense variant G/A;C snv 5
rs121913378
BRAF
0.776 0.280 7 140753337 missense variant C/A;G;T snv 6
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv 11
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 46
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv 12
rs121918467
PTPN11
0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 23
rs121918470
PTPN11
0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 10
rs121918487
FGFR2
0.716 0.440 10 121517378 missense variant C/A;G;T snv 24
rs121918494
FGFR2
0.790 0.160 10 121517363 missense variant G/C snv 24
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 15
rs1553200431
COL11A1
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 8
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17