Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs61752129
PEX26
0.776 0.240 22 18078405 frameshift variant C/-;CC delins 14
rs1553200431
COL11A1
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 8
rs1553630457
TGFBR2
0.882 0.240 3 30674231 missense variant T/C snv 8
rs397507549
PTPN11
0.742 0.240 12 112489104 missense variant C/A;G snv 6
rs121913375
BRAF
0.851 0.240 7 140753339 missense variant G/A;C snv 5
rs397507509
PTPN11
0.807 0.240 12 112450359 missense variant G/C;T snv 5
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs121918467
PTPN11
0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 23
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 17
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 15
rs1057516030
LOC105372797 ; DYRK1A
0.807 0.280 21 37480785 stop gained -/A delins 14
rs397507547
PTPN11
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 14
rs1057519369
NF1
0.790 0.280 17 31340532 frameshift variant -/G delins 13
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv 12
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv 11
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv 10
rs1057524237
COL11A1
0.851 0.280 1 102915626 splice region variant C/T snv 7
rs121913378
BRAF
0.776 0.280 7 140753337 missense variant C/A;G;T snv 6
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54