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
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1178187217
DNAH11
0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 38
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 38
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 25
rs199564797
SELENON
0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05 25
rs745886248
SELENON
0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06 25
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
rs727503057
FBN1
0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 16
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 15
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs1085308004
FBN1
0.807 0.240 15 48425420 missense variant A/G snv 9
rs761857514
FBN1
0.851 0.240 15 48452676 stop gained C/A;T snv 4.0E-06 8
rs1057518812
FBN1
0.827 0.240 15 48430742 missense variant T/A snv 6