Disease: Congenital Epicanthus
Source: INFERRED ×
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 46
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs138632121
THOC6 ; HCFC1R1
0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04 13
rs200426926
THOC6 ; BICDL2
0.776 0.400 16 3027379 missense variant G/A;T snv 1.8E-04; 4.0E-06 13
rs1131692229
KIDINS220
0.851 0.120 2 8730956 frameshift variant GT/- delins 11
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv 11
rs199473457
KCNQ1
0.827 0.200 11 2572020 missense variant C/A;T snv 11
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv 11
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv 10
rs1057516049
KAT6A
0.851 0.040 8 41933963 frameshift variant CACT/- delins 7
rs1057518864
TCF4
0.925 18 55350409 splice acceptor variant C/T snv 7
rs1064794254
UPF3B
0.851 0.120 X 119841185 frameshift variant CT/- delins 6