SLC26A2, solute carrier family 26 member 2, 1836

N. diseases: 198; N. variants: 78
Disease: Atelosteogenesis type 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: 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: 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: 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: 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: 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: rs766836061
rs766836061 		0.851 0.120 5 149981300 stop gained C/G;T snv 4.0E-06
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 1996 1996
dbSNP: rs104893917
rs104893917 		1.000 0.080 5 149980357 missense variant G/A snv 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 1 1996 1996
dbSNP: rs1057517461
rs1057517461 		0.851 0.120 5 149978353 splice donor variant T/C snv
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 1999 1999
dbSNP: rs1057517513
rs1057517513 		0.851 0.120 5 149981586 frameshift variant AC/- delins
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs386833495
rs386833495 		0.851 0.120 5 149980984 frameshift variant T/- delins
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2001 2001
dbSNP: rs386833499
rs386833499 		0.851 0.120 5 149981565 frameshift variant T/- delins
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2001 2001
dbSNP: rs763198695
rs763198695 		0.851 0.120 5 149978135 frameshift variant TG/- delins 4.0E-06 7.0E-06
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2010 2010
dbSNP: rs786200881
rs786200881 		0.851 0.120 5 149978041 frameshift variant C/- delins
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 1996 1996
dbSNP: rs1057517462
rs1057517462 		0.851 0.120 5 149977857 frameshift variant T/- delins
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057517471
rs1057517471 		0.851 0.120 5 149980903 frameshift variant -/T delins
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057517474
rs1057517474 		0.851 0.120 5 149981546 frameshift variant ACTG/- delins
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057517482
rs1057517482 		0.851 0.120 5 149981240 frameshift variant A/- delins
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057517483
rs1057517483 		0.851 0.120 5 149978193 stop gained C/T snv
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057517495
rs1057517495 		0.851 0.120 5 149980515 frameshift variant A/- del
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057517496
rs1057517496 		0.851 0.120 5 149977840 frameshift variant A/- del
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057517502
rs1057517502 		0.851 0.120 5 149980929 frameshift variant A/- delins
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057517504
rs1057517504 		0.851 0.120 5 149977886 frameshift variant -/GCAGT delins
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057517511
rs1057517511 		0.851 0.120 5 149981129 frameshift variant -/GTTAT delins
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057517514
rs1057517514 		0.851 0.120 5 149980339 stop gained C/G snv
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057517523
rs1057517523 		0.851 0.120 5 149977837 stop gained C/G snv
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0