BIN1, bridging integrator 1, 274

N. diseases: 163; N. variants: 24
Disease: Myopathy, Centronuclear, Autosomal Recessive ×
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: rs121909273
rs121909273 		1.000 0.080 2 127076686 missense variant C/A snv
CUI: C0410204
Disease: Myopathy, Centronuclear, Autosomal Recessive
Myopathy, Centronuclear, Autosomal Recessive 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 5 2007 2018
dbSNP: rs121909274
rs121909274 		1.000 0.080 2 127068992 missense variant C/T snv
CUI: C0410204
Disease: Myopathy, Centronuclear, Autosomal Recessive
Myopathy, Centronuclear, Autosomal Recessive 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 5 2007 2018
dbSNP: rs777176261
rs777176261 		1.000 0.080 2 127063645 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0410204
Disease: Myopathy, Centronuclear, Autosomal Recessive
Myopathy, Centronuclear, Autosomal Recessive 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 5 2007 2018
dbSNP: rs267606681
rs267606681 		1.000 0.080 2 127068982 missense variant C/T snv
CUI: C0410204
Disease: Myopathy, Centronuclear, Autosomal Recessive
Myopathy, Centronuclear, Autosomal Recessive 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 3 2010 2014
dbSNP: rs1249621033
rs1249621033 		1.000 0.080 2 127069010 missense variant G/A snv 4.0E-06
CUI: C0410204
Disease: Myopathy, Centronuclear, Autosomal Recessive
Myopathy, Centronuclear, Autosomal Recessive 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2012 2018
dbSNP: rs121909275
rs121909275 		1.000 0.080 2 127048585 stop gained T/A snv
CUI: C0410204
Disease: Myopathy, Centronuclear, Autosomal Recessive
Myopathy, Centronuclear, Autosomal Recessive 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs1295546366
rs1295546366 		1.000 0.080 2 127054014 splice acceptor variant T/C;G snv 6.4E-06
CUI: C0410204
Disease: Myopathy, Centronuclear, Autosomal Recessive
Myopathy, Centronuclear, Autosomal Recessive 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587783343
rs587783343 		1.000 0.080 2 127048595 stop gained C/T snv
CUI: C0410204
Disease: Myopathy, Centronuclear, Autosomal Recessive
Myopathy, Centronuclear, Autosomal Recessive 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs761813363
rs761813363 		1.000 0.080 2 127070022 frameshift variant -/GT delins 7.0E-06
CUI: C0410204
Disease: Myopathy, Centronuclear, Autosomal Recessive
Myopathy, Centronuclear, Autosomal Recessive 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0