Disease: Micrognathism
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
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs1558939623
CHN1
0.732 0.480 2 174824479 missense variant C/T snv 19
rs771409809
WFS1
0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 19
rs1555565774
EFTUD2
0.807 0.360 17 44862753 frameshift variant G/- delins 16
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins 16
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 16
rs782736894
BPTF
0.827 0.280 17 67975841 missense variant T/C;G snv 4.0E-06 7.0E-06 16
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs1569309484
RLIM
0.807 0.200 X 74591586 missense variant A/G snv 13
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv 7
rs1553538917
SATB2
0.882 0.120 2 199272423 stop gained G/A snv 7