Disease: Congenital Epicanthus
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv 11
rs1554844486
KAT6B
0.827 0.160 10 75024984 frameshift variant GGGT/- del 10
rs1057516049
KAT6A
0.851 0.040 8 41933963 frameshift variant CACT/- delins 7