Disease: Downward slant of palpebral fissure
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 16
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv 14
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv 13
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11