CHST3, carbohydrate sulfotransferase 3, 9469

N. diseases: 214; N. variants: 18
Disease: Spondyloepiphyseal dysplasia, Omani type ×
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: rs121908616
rs121908616 		1.000 0.080 10 72007807 missense variant T/C snv
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 2 2004 2008
dbSNP: rs121908617
rs121908617 		1.000 0.080 10 72007695 missense variant C/A;T snv
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 2 2004 2008
dbSNP: rs121908618
rs121908618 		1.000 0.080 10 72007951 missense variant T/C snv
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 2 2004 2008
dbSNP: rs28937593
rs28937593 		1.000 0.080 10 72007942 missense variant G/A snv
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 2 2004 2008
dbSNP: rs121908620
rs121908620 		0.925 0.080 10 72007888 missense variant T/C snv
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 1 2008 2008
dbSNP: rs121908619
rs121908619 		1.000 0.080 10 72007634 stop gained C/A;T snv
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1316347883
rs1316347883 		0.851 0.080 10 72007935 missense variant G/A;C snv 6.9E-06
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1416783446
rs1416783446 		1.000 0.080 10 72008343 stop gained C/T snv 5.7E-06
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554817549
rs1554817549 		1.000 0.080 10 72007711 missense variant C/G snv
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs267606732
rs267606732 		1.000 0.080 10 72008019 stop gained C/A;T snv
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs267606733
rs267606733 		1.000 0.080 10 72007512 missense variant C/G;T snv
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs267606734
rs267606734 		1.000 0.080 10 72008145 missense variant G/A snv
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs267606735
rs267606735 		1.000 0.080 10 72007453 missense variant C/A;T snv 4.3E-06; 4.3E-06
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs747171013
rs747171013 		1.000 0.080 10 72008094 missense variant G/A;T snv
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs769540174
rs769540174 		1.000 0.080 10 72007559 frameshift variant G/-;GG delins
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs771866012
rs771866012 		0.882 0.080 10 72007522 missense variant C/G;T snv 4.2E-06; 4.2E-06
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0