Disease: Congenital Epicanthus
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 27
rs1554110735
TFAP2A
0.776 0.200 6 10398693 frameshift variant TT/- delins 13