Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs113994158
rs113994158 		0.925 0.120 15 89776853 frameshift variant -/ACCG delins
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		Musculoskeletal Diseases 0.700 0
dbSNP: rs118204034
rs118204034 		1.000 0.040 15 89776598 stop gained G/A;C;T snv 8.4E-06; 2.5E-05
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		Musculoskeletal Diseases 0.700 0
dbSNP: rs118204035
rs118204035 		1.000 0.040 15 89777057 stop gained G/T snv
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1206731716
rs1206731716 		1.000 0.040 15 89776473 stop gained C/A;T snv
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1452984345
rs1452984345 		1.000 0.040 15 89776613 frameshift variant CAGC/- delins 3.5E-05
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1555439013
rs1555439013 		1.000 0.040 15 89776368 stop gained C/A snv
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1555439049
rs1555439049 		1.000 0.040 15 89776601 frameshift variant -/GCAGAGCG delins
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1555439061
rs1555439061 		1.000 0.040 15 89776699 frameshift variant -/GC delins
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1555439063
rs1555439063 		1.000 0.040 15 89776706 stop gained C/T snv
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1555439118
rs1555439118 		1.000 0.040 15 89776943 stop gained C/T snv
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1555439152
rs1555439152 		1.000 0.040 15 89777094 stop gained G/A snv
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		Musculoskeletal Diseases 0.700 0
dbSNP: rs538996447
rs538996447 		1.000 0.040 15 89776586 stop gained G/A;T snv 8.2E-06; 2.5E-05
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		Musculoskeletal Diseases 0.700 0
dbSNP: rs71647806
rs71647806 		1.000 0.040 15 89776730 missense variant C/G snv
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		Musculoskeletal Diseases 0.700 0
dbSNP: rs71647808
rs71647808 		0.925 0.120 15 89776664 stop gained G/A;C;T snv 1.0E-04; 2.7E-05; 4.1E-05
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		Musculoskeletal Diseases 0.700 0
dbSNP: rs762067626
rs762067626 		1.000 0.040 15 89776607 stop gained C/A;T snv 8.6E-06
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		Musculoskeletal Diseases 0.700 0
dbSNP: rs912110093
rs912110093 		1.000 0.040 15 89776405 stop gained G/A;C snv
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		Musculoskeletal Diseases 0.700 0