Disease: Short stature
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519436
DHX30
0.882 0.200 3 47846550 missense variant G/A snv 7
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 8
rs121434616
CUL4B
0.925 0.080 X 120544179 stop gained G/A snv 6
rs121908216
CACNA1A
0.882 0.200 19 13235702 missense variant C/T snv 7
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs1557036757
HUWE1
0.925 0.240 X 53647375 missense variant G/A snv 7
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 14
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 35
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 28
rs724159949
LOC105372797 ; DYRK1A
0.827 0.240 21 37486563 stop gained C/T snv 15
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 22
rs797044519
DYRK1A
0.925 21 37478285 stop gained C/A;G;T snv 9
rs797044520
DYRK1A
0.925 21 37505442 stop gained C/T snv 6
rs797044521
LOC105372797 ; DYRK1A
0.925 21 37480768 frameshift variant A/- delins 8
rs797044522
DYRK1A
0.925 21 37496119 frameshift variant AGAT/- delins 9
rs797044523
LOC105372797 ; DYRK1A
0.882 21 37480756 frameshift variant -/A delins 9
rs797044524
LOC105372797 ; DYRK1A
0.925 21 37486513 missense variant A/T snv 9
rs797044525
DYRK1A ; LOC105372797
0.925 21 37490244 missense variant T/G snv 9
rs797044526
DYRK1A ; LOC105372797
0.925 21 37490393 missense variant C/T snv 7
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv 8