SLC26A2, solute carrier family 26 member 2, 1836

N. diseases: 198; N. variants: 78
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: rs104893915
rs104893915 		0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 9 1996 2010
dbSNP: rs104893924
rs104893924 		0.851 0.120 5 149981550 missense variant T/A snv 1.1E-04 1.3E-04
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 8 2001 2012
dbSNP: rs104893915
rs104893915 		0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 14 1996 2012
dbSNP: rs104893918
rs104893918 		0.851 0.120 5 149981737 missense variant C/T snv 3.6E-05 2.8E-05
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 6 1996 2012
dbSNP: rs104893918
rs104893918 		0.851 0.120 5 149981737 missense variant C/T snv 3.6E-05 2.8E-05
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 5 1996 2012
dbSNP: rs104893916
rs104893916 		0.882 0.120 5 149981626 missense variant G/T snv 4.0E-06 2.1E-05
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
Achondrogenesis, type IB (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 1996 1996
dbSNP: rs104893920
rs104893920 		0.882 0.120 5 149980866 missense variant A/G snv
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
Achondrogenesis, type IB (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 1996 1996
dbSNP: rs104893915
rs104893915 		0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.750 1.000 18 1996 2016
dbSNP: rs104893920
rs104893920 		0.882 0.120 5 149980866 missense variant A/G snv
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.710 1.000 1 1997 1997
dbSNP: rs121908078
rs121908078 		0.925 0.120 5 149981128 missense variant C/A snv 4.8E-05 7.0E-06
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.710 1.000 1 2008 2008
dbSNP: rs104893915
rs104893915 		0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
Achondrogenesis, type IB (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 8 1996 2010
dbSNP: rs104893924
rs104893924 		0.851 0.120 5 149981550 missense variant T/A snv 1.1E-04 1.3E-04
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 8 2001 2012
dbSNP: rs104893924
rs104893924 		0.851 0.120 5 149981550 missense variant T/A snv 1.1E-04 1.3E-04
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
Achondrogenesis, type IB (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 8 2001 2012
dbSNP: rs104893924
rs104893924 		0.851 0.120 5 149981550 missense variant T/A snv 1.1E-04 1.3E-04
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 8 2001 2012
dbSNP: rs104893915
rs104893915 		0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 6 1996 2010
dbSNP: rs104893918
rs104893918 		0.851 0.120 5 149981737 missense variant C/T snv 3.6E-05 2.8E-05
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
Achondrogenesis, type IB (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 5 1996 2012
dbSNP: rs104893918
rs104893918 		0.851 0.120 5 149981737 missense variant C/T snv 3.6E-05 2.8E-05
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 5 1996 2012
dbSNP: rs104893919
rs104893919 		0.851 0.120 5 149978184 stop gained C/T snv 1.3E-04 1.2E-04
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 5 1996 2011
dbSNP: rs104893919
rs104893919 		0.851 0.120 5 149978184 stop gained C/T snv 1.3E-04 1.2E-04
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 5 1996 2011
dbSNP: rs104893919
rs104893919 		0.851 0.120 5 149978184 stop gained C/T snv 1.3E-04 1.2E-04
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 5 1996 2011
dbSNP: rs104893919
rs104893919 		0.851 0.120 5 149978184 stop gained C/T snv 1.3E-04 1.2E-04
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
Achondrogenesis, type IB (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 5 1996 2011
dbSNP: rs386833497
rs386833497 		0.851 0.120 5 149981243 frameshift variant G/- del 8.0E-06 2.8E-05
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 5 2001 2010
dbSNP: rs386833497
rs386833497 		0.851 0.120 5 149981243 frameshift variant G/- del 8.0E-06 2.8E-05
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 5 2001 2010
dbSNP: rs386833497
rs386833497 		0.851 0.120 5 149981243 frameshift variant G/- del 8.0E-06 2.8E-05
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
Achondrogenesis, type IB (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 5 2001 2010
dbSNP: rs386833497
rs386833497 		0.851 0.120 5 149981243 frameshift variant G/- del 8.0E-06 2.8E-05
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 5 2001 2010