Disease: Scoliosis, unspecified
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 37
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del 33
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs864321670
ALDH18A1
0.763 0.320 10 95633012 missense variant C/T snv 24
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv 22
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 20
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 14
rs1057518812
FBN1
0.827 0.240 15 48430742 missense variant T/A snv 6
rs1057518891
CHD7
0.851 0.120 8 60854479 stop gained C/T snv 6