Disease: Congenital Epicanthus
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs1057516044
ABCC9
0.851 0.240 12 21913005 missense variant A/G snv 9
rs1064794254
UPF3B
0.851 0.120 X 119841185 frameshift variant CT/- delins 6