Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 49
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 27
rs121918467
PTPN11
0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 23
rs1131692034
EDA
0.790 0.160 X 69616488 stop gained C/A snv 14
rs1057518791
TRPS1
0.925 0.120 8 115604739 stop gained C/T snv 7