Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1085308052
rs1085308052
0.851 0.160 10 87952144 frameshift variant -/T delins
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs112550005
rs112550005
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs113422242
rs113422242
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs113871094
rs113871094
0.683 0.320 15 48465820 stop gained G/A snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs1163944538
rs1163944538
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs1178187217
rs1178187217
0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs121908188
rs121908188
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs1232880706
rs1232880706
0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs1350968647
rs1350968647
0.851 0.080 17 10642825 splice donor variant C/T snv 7.0E-06
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs1352010373
rs1352010373
0.641 0.560 17 75489265 splice acceptor variant G/C snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs1364709483
rs1364709483
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs140119177
rs140119177
0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs1441937959
rs1441937959
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs1554208945
rs1554208945
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs1554317002
rs1554317002
0.724 0.440 7 39950821 frameshift variant C/- delins
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs1555103652
rs1555103652
0.882 0.240 12 13569973 missense variant A/C snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs1555216163
rs1555216163
0.851 0.160 12 80717084 frameshift variant AGTTCTCACC/- delins
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs1555452127
rs1555452127
0.742 0.400 16 5079078 missense variant T/C snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs1555731819
rs1555731819
0.807 0.200 19 35729980 missense variant G/T snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs1555735545
rs1555735545
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs1555939456
rs1555939456
0.851 0.200 X 20187956 missense variant T/C snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs1555968941
rs1555968941
0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs1556913268
rs1556913268
0.851 0.240 X 53536600 missense variant T/A snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs1556978515
rs1556978515
0.851 0.280 X 53591113 missense variant T/C snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0