Disease: Congenital Epicanthus
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
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
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26