Disease: Congenital Epicanthus
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 15
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv 10
rs1554844486
KAT6B
0.827 0.160 10 75024984 frameshift variant GGGT/- del 10