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: rs324175
rs324175 		11 21932141 intron variant T/C snv 0.83
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2008 2008
dbSNP: rs11026407
rs11026407 		11 22083484 intron variant C/A snv 0.54
CUI: C0202230
Disease: Thyroid stimulating hormone measurement
Thyroid stimulating hormone measurement 		0.800 1.000 1 2014 2014
dbSNP: rs11026407
rs11026407 		11 22083484 intron variant C/A snv 0.54
CUI: C0696098
Disease: Blood thyroid stimulating hormone analysis
Blood thyroid stimulating hormone analysis 		0.700 1.000 1 2014 2014
dbSNP: rs76854597
rs76854597 		11 22200238 intron variant A/C;T snv
CUI: C0201973
Disease: Creatine kinase measurement
Creatine kinase measurement 		0.700 1.000 1 2018 2018
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: 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: rs868484837
rs868484837 		0.925 0.160 11 22218245 splice acceptor variant G/- del 4.0E-06 1.4E-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 3 2011 2015
dbSNP: rs1168346560
rs1168346560 		0.882 0.200 11 22218255 stop gained C/T snv 7.0E-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 0
dbSNP: rs1168346560
rs1168346560 		0.882 0.200 11 22218255 stop gained C/T snv 7.0E-06
CUI: C2750076
Disease: Miyoshi Muscular Dystrophy 3
Miyoshi Muscular Dystrophy 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System 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: rs886043577
rs886043577 		1.000 0.120 11 22218268 missense variant T/C 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 2010 2015
dbSNP: rs201725369
rs201725369 		0.925 0.160 11 22218279 missense variant C/G;T snv 4.0E-06; 1.0E-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 0.800 1.000 7 2010 2016
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: 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: rs137854521
rs137854521 		0.851 0.200 11 22221100 frameshift variant -/A delins
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0
dbSNP: rs137854521
rs137854521 		0.851 0.200 11 22221100 frameshift variant -/A delins
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs137854521
rs137854521 		0.851 0.200 11 22221100 frameshift variant -/A delins
CUI: C4024921
Disease: Lower limb amyotrophy
Lower limb amyotrophy 		0.700 0
dbSNP: rs137854521
rs137854521 		0.851 0.200 11 22221100 frameshift variant -/A delins
CUI: C2750076
Disease: Miyoshi Muscular Dystrophy 3
Miyoshi Muscular Dystrophy 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs137854521
rs137854521 		0.851 0.200 11 22221100 frameshift variant -/A delins
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs137854521
rs137854521 		0.851 0.200 11 22221100 frameshift variant -/A delins
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles 		0.700 0
dbSNP: rs137854521
rs137854521 		0.851 0.200 11 22221100 frameshift variant -/A delins
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
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: rs749645231
rs749645231 		0.925 0.160 11 22221136 stop gained C/T snv 2.8E-05 2.1E-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 2 2012 2015