Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs797045412
BICD2
0.776 0.280 9 92718565 missense variant G/A;T snv 17
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 52
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins 20
rs1569309484
RLIM
0.807 0.200 X 74591586 missense variant A/G snv 13
rs1057519381
MED12
0.851 0.240 X 71124276 missense variant G/A snv 6
rs104894578
KCNJ2
0.807 0.280 17 70175691 missense variant C/T snv 6
rs782736894
BPTF
0.827 0.280 17 67975841 missense variant T/C;G snv 4.0E-06 7.0E-06 16
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins 16
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs771409809
WFS1
0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 19
rs121908425
EVC ; CRMP1
0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 14
rs753317536
EVC
0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06 12
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs1555398673
FBN1
0.807 0.200 15 48488433 missense variant A/G snv 7
rs397515789
FBN1
0.776 0.240 15 48488112 splice donor variant C/A;T snv 10
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv 18
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv 45
rs1555565774
EFTUD2
0.807 0.360 17 44862753 frameshift variant G/- delins 16
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15