Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv 45
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins 20
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv 18
rs397515789
FBN1
0.776 0.240 15 48488112 splice donor variant C/A;T snv 10
rs1555398673
FBN1
0.807 0.200 15 48488433 missense variant A/G snv 7
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 50
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
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
rs782736894
BPTF
0.827 0.280 17 67975841 missense variant T/C;G snv 4.0E-06 7.0E-06 16
rs104894578
KCNJ2
0.807 0.280 17 70175691 missense variant C/T snv 6
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv 26
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs61752129
PEX26
0.776 0.240 22 18078405 frameshift variant C/-;CC delins 14
rs431905509
SLC25A1
0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 8
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 23
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 17
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15