NEB, nebulin, 4703

N. diseases: 148; N. variants: 280
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: rs747564597
rs747564597 		1.000 0.080 2 151497656 frameshift variant TTTC/-;TTTCTTTC delins 9.7E-06 4.2E-05
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2014 2016
dbSNP: rs748922882
rs748922882 		0.925 0.080 2 151525265 stop gained G/C;T snv 8.0E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2002 2006
dbSNP: rs754369875
rs754369875 		1.000 0.080 2 151562694 stop gained G/A snv 4.1E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2012 2014
dbSNP: rs762133567
rs762133567 		1.000 0.080 2 151496363 splice acceptor variant -/AACA;ACA delins 1.2E-05
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2011 2014
dbSNP: rs763364977
rs763364977 		0.925 0.080 2 151496308 stop gained G/A;T snv 8.1E-06 2.1E-05
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2014 2016
dbSNP: rs765403861
rs765403861 		1.000 0.080 2 151640644 frameshift variant -/ATAG delins 7.0E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2006 2014
dbSNP: rs769345284
rs769345284 		0.882 0.280 2 151537898 stop gained G/A snv 3.2E-05
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2008 2014
dbSNP: rs769345284
rs769345284 		0.882 0.280 2 151537898 stop gained G/A snv 3.2E-05
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2014 2016
dbSNP: rs773952935
rs773952935 		1.000 0.080 2 151727689 splice donor variant A/G;T snv 4.0E-05 7.0E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2006 2015
dbSNP: rs786204430
rs786204430 		0.925 0.080 2 151684829 frameshift variant A/- del 7.0E-06
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2006 2016
dbSNP: rs786204576
rs786204576 		1.000 0.080 2 151674475 splice donor variant AC/CA mnv
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2006 2014
dbSNP: rs797045736
rs797045736 		1.000 0.080 2 151691859 splice region variant C/A;T snv 7.0E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2011 2011
dbSNP: rs934111355
rs934111355 		0.925 0.080 2 151496992 frameshift variant GTAG/- delins 5.0E-06 1.4E-05
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2014 2016
dbSNP: rs10174077
rs10174077 		1.000 0.080 2 151625198 intron variant C/T snv 0.35
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2017 2017
dbSNP: rs10182296
rs10182296 		2 151515219 intron variant G/A snv 0.61
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs10186482
rs10186482 		2 151625463 intron variant A/G snv 0.51
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs10432479
rs10432479 		2 151509261 intron variant T/C snv 0.61
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs1057516996
rs1057516996 		1.000 0.080 2 151650380 splice acceptor variant C/T snv 7.0E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs1057517360
rs1057517360 		1.000 0.080 2 151724952 stop gained G/A snv
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1057517977
rs1057517977 		1.000 0.080 2 151636283 stop gained G/A;T snv
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs112544116
rs112544116 		1.000 0.080 2 151565715 splice donor variant C/A;G;T snv
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs112610938
rs112610938 		1.000 0.080 2 151514316 splice donor variant A/G;T snv 4.0E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs113091511
rs113091511 		1.000 0.080 2 151682661 splice donor variant C/G;T snv 4.1E-06 1.4E-05
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs113326313
rs113326313 		1.000 0.080 2 151680023 splice acceptor variant C/A;T snv
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1159756073
rs1159756073 		1.000 0.080 2 151678053 frameshift variant TA/- delins
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014