ANO5, anoctamin 5, 203859

N. diseases: 110; N. variants: 62
Disease: Osteogenesis imperfecta, Levin 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: rs119103234
rs119103234 		1.000 0.120 11 22250793 missense variant T/C;G snv
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.810 1.000 1 2004 2004
dbSNP: rs137854529
rs137854529 		0.882 0.200 11 22274605 missense variant C/T snv 5.8E-04 4.8E-04
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 8 2010 2016
dbSNP: rs142027093
rs142027093 		0.882 0.200 11 22263044 splice donor variant G/A snv 1.3E-04 8.4E-05
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 8 2011 2015
dbSNP: rs137854523
rs137854523 		0.851 0.240 11 22236206 missense variant G/T snv 1.0E-03 9.6E-04
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 6 2010 2015
dbSNP: rs281865480
rs281865480 		0.925 0.160 11 22259733 frameshift variant -/A delins
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 6 2011 2015
dbSNP: rs201725369
rs201725369 		0.925 0.160 11 22218279 missense variant C/G;T snv 4.0E-06; 1.0E-04
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 5 2012 2016
dbSNP: rs137854521
rs137854521 		0.851 0.200 11 22221100 frameshift variant -/A delins
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 4 2010 2013
dbSNP: rs137854527
rs137854527 		0.925 0.160 11 22270431 missense variant A/G snv
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 4 2011 2013
dbSNP: rs398124625
rs398124625 		0.925 0.160 11 22203803 splice acceptor variant G/A snv 1.2E-05 6.3E-05
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 4 2011 2015
dbSNP: rs780109230
rs780109230 		0.925 0.160 11 22225983 splice acceptor variant G/A snv 4.0E-06
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 4 2011 2015
dbSNP: rs281865467
rs281865467 		1.000 0.120 11 22259649 missense variant C/T snv
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 3 2004 2016
dbSNP: rs372221490
rs372221490 		0.925 0.160 11 22236277 splice donor variant G/A snv 1.6E-05 2.8E-05
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 3 2011 2015
dbSNP: rs561719071
rs561719071 		0.925 0.160 11 22250950 splice acceptor variant G/A snv 8.0E-06 7.0E-06
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 3 2011 2015
dbSNP: rs794727158
rs794727158 		0.925 0.160 11 22259630 frameshift variant T/- delins
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 3 2012 2013
dbSNP: rs868484837
rs868484837 		0.925 0.160 11 22218245 splice acceptor variant G/- del 4.0E-06 1.4E-05
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 3 2011 2015
dbSNP: rs749645231
rs749645231 		0.925 0.160 11 22221136 stop gained C/T snv 2.8E-05 2.1E-05
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 2 2012 2015
dbSNP: rs368970223
rs368970223 		0.882 0.160 11 22255403 stop gained C/T snv 1.6E-05 4.2E-05
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs398124626
rs398124626 		0.925 0.160 11 22250345 frameshift variant -/T delins
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs886043172
rs886043172 		0.925 0.160 11 22270415 frameshift variant G/- delins
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1064793358
rs1064793358 		0.925 0.160 11 22225988 frameshift variant G/- del
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1168346560
rs1168346560 		0.882 0.200 11 22218255 stop gained C/T snv 7.0E-06
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs137854524
rs137854524 		0.882 0.200 11 22255485 missense variant C/G snv 2.8E-05 1.4E-05
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554924356
rs1554924356 		0.925 0.160 11 22227350 stop gained G/T snv
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554929292
rs1554929292 		1.000 0.120 11 22250805 missense variant T/C snv
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554929301
rs1554929301 		0.925 0.160 11 22250815 stop gained G/A snv
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0