ANO5, anoctamin 5, 203859

N. diseases: 110; N. variants: 62
Disease: Myopathy ×
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: 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: rs375014127
rs375014127 		1.000 0.120 11 22262162 missense variant G/A;T snv 4.0E-06; 6.8E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0