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: rs1057518855
rs1057518855 		11 22270443 splice donor variant -/T delins
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1064793358
rs1064793358 		0.925 0.160 11 22225988 frameshift variant G/- del
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: 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: 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: 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: rs137854523
rs137854523 		0.851 0.240 11 22236206 missense variant G/T snv 1.0E-03 9.6E-04
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: rs137854524
rs137854524 		0.882 0.200 11 22255485 missense variant C/G snv 2.8E-05 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 0
dbSNP: rs137854524
rs137854524 		0.882 0.200 11 22255485 missense variant C/G snv 2.8E-05 1.4E-05
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: 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: rs137854528
rs137854528 		1.000 0.120 11 22274640 frameshift variant CA/- delins 4.2E-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 0
dbSNP: rs1380525804
rs1380525804 		1.000 0.120 11 22239619 stop gained C/G;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: rs142027093
rs142027093 		0.882 0.200 11 22263044 splice donor variant G/A snv 1.3E-04 8.4E-05
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: 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: rs1554924356
rs1554924356 		0.925 0.160 11 22227350 stop gained G/T 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 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: 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: 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