Disease: Congenital Epicanthus
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 15
rs1057516044
ABCC9
0.851 0.240 12 21913005 missense variant A/G snv 9