Disease: Sunken eyes
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 62
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 49
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs724159949
LOC105372797 ; DYRK1A
0.827 0.240 21 37486563 stop gained C/T snv 15
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 14
rs113993993
SBDS
0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03 9
rs1557024919
HUWE1
0.925 0.240 X 53634235 splice donor variant C/G snv 7
rs120074160
SBDS
0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03 6