ANO5, anoctamin 5, 203859

N. diseases: 110; N. variants: 62
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: rs975757101
rs975757101 		1.000 0.120 11 22226034 synonymous variant G/A snv
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
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: rs142027093
rs142027093 		0.882 0.200 11 22263044 splice donor variant G/A snv 1.3E-04 8.4E-05
CUI: C1969785
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System 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: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 7 2010 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: rs281865480
rs281865480 		0.925 0.160 11 22259733 frameshift variant -/A delins
CUI: C1969785
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System 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: rs115750596
rs115750596 		1.000 0.120 11 22227542 missense variant G/A snv 2.5E-03 9.5E-03
CUI: C1969785
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2010 2015
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: rs137854521
rs137854521 		0.851 0.200 11 22221100 frameshift variant -/A delins
CUI: C1969785
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System 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: rs137854527
rs137854527 		0.925 0.160 11 22270431 missense variant A/G snv
CUI: C1969785
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2011 2013
dbSNP: rs138144479
rs138144479 		1.000 0.120 11 22239606 missense variant C/G snv 1.7E-03 7.1E-03
CUI: C1969785
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2010 2015
dbSNP: rs139618850
rs139618850 		1.000 0.120 11 22262138 missense variant G/A snv 1.4E-04 9.8E-05
CUI: C1969785
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2010 2015
dbSNP: rs142073798
rs142073798 		1.000 0.120 11 22276177 missense variant T/A;G snv 1.2E-04; 8.0E-06
CUI: C1969785
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2010 2015
dbSNP: rs1422717390
rs1422717390 		1.000 0.120 11 22262999 missense variant G/A snv 4.0E-06
CUI: C1969785
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2010 2015
dbSNP: rs148293985
rs148293985 		1.000 0.120 11 22279721 missense variant A/C snv 1.2E-03 1.7E-03
CUI: C1969785
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2010 2015
dbSNP: rs200631556
rs200631556 		1.000 0.120 11 22272895 missense variant C/G snv 8.9E-04 8.9E-04
CUI: C1969785
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2010 2015
dbSNP: rs34994927
rs34994927 		1.000 0.120 11 22221175 missense variant G/A;C snv 8.7E-04
CUI: C1969785
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2010 2015
dbSNP: rs375014127
rs375014127 		1.000 0.120 11 22262162 missense variant G/A;T snv 4.0E-06; 6.8E-05
CUI: C1969785
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2010 2015
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: rs398124625
rs398124625 		0.925 0.160 11 22203803 splice acceptor variant G/A snv 1.2E-05 6.3E-05
CUI: C1969785
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2011 2015
dbSNP: rs745908606
rs745908606 		1.000 0.120 11 22239603 missense variant C/T snv 2.4E-05 1.8E-04
CUI: C1969785
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2010 2015