BIN1, bridging integrator 1, 274

N. diseases: 163; N. variants: 24
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: rs10207628
rs10207628 		0.925 0.120 2 127094445 intron variant G/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.800 1.000 1 2012 2012
dbSNP: rs10194375
rs10194375 		1.000 0.080 2 127082205 intron variant C/A;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs10207628
rs10207628 		0.925 0.120 2 127094445 intron variant G/A;C snv
CUI: C0349198
Disease: Acute transient psychotic disorder
Acute transient psychotic disorder 		Pathological Conditions, Signs and Symptoms; Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs1060743
rs1060743 		0.925 0.080 2 127068957 synonymous variant A/G snv 0.34 0.29
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs11694743
rs11694743 		2 127085031 intron variant A/G snv 0.36
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 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: rs13032148
rs13032148 		2 127107524 upstream gene variant G/A snv 0.32
CUI: C0201973
Disease: Creatine kinase measurement
Creatine kinase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs17014873
rs17014873 		1.000 0.080 2 127072643 intron variant A/C snv 0.11
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs6431219
rs6431219 		1.000 0.080 2 127104557 intron variant C/T snv 0.41
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs72838215
rs72838215 		1.000 0.080 2 127104478 intron variant G/A snv 0.13
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs754107
rs754107 		1.000 0.080 2 127103254 intron variant C/G snv 0.63
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
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
dbSNP: rs1060743
rs1060743 		0.925 0.080 2 127068957 synonymous variant A/G snv 0.34 0.29
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs138047593
rs138047593 		1.000 0.080 2 127050470 missense variant T/C snv 9.2E-03 8.2E-03
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs1426802434
rs1426802434 		1.000 0.080 2 127070588 missense variant A/T snv 4.0E-06
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs372072916
rs372072916 		1.000 0.080 2 127062167 missense variant C/T snv 5.7E-05 9.1E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs67327804
rs67327804 		1.000 0.080 2 127069056 intron variant A/G snv 0.30 0.33
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs754834233
rs754834233 		1.000 0.080 2 127059060 missense variant G/A snv 4.1E-05
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014