NEB, nebulin, 4703

N. diseases: 148; N. variants: 280
Disease: Nemaline Myopathy 2 ×
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: rs191579691
rs191579691 		0.925 0.080 2 151561212 missense variant C/A;T snv 5.9E-05; 8.4E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 5 2006 2016
dbSNP: rs201553266
rs201553266 		0.882 0.080 2 151551738 splice region variant C/T snv 2.8E-05 7.0E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2014 2016
dbSNP: rs1553555882
rs1553555882 		1.000 0.080 2 151498274 frameshift variant -/ATTG delins
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2002 2015
dbSNP: rs375145370
rs375145370 		1.000 0.080 2 151630821 splice acceptor variant T/C snv 2.4E-05 4.2E-05
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2012 2017
dbSNP: rs398124167
rs398124167 		1.000 0.080 2 151706880 splice donor variant C/A;T snv 9.1E-06; 1.8E-05
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2013 2014
dbSNP: rs878854368
rs878854368 		1.000 0.080 2 151646140 frameshift variant GATT/- delins 7.0E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2006 2016
dbSNP: rs1057516758
rs1057516758 		1.000 0.080 2 151658088 frameshift variant T/- delins
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2006 2014
dbSNP: rs1458048713
rs1458048713 		0.925 0.080 2 151499299 stop gained G/A;T snv 7.3E-06; 3.6E-05
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2014 2016
dbSNP: rs1475648900
rs1475648900 		1.000 0.080 2 151563623 stop gained G/A snv 7.0E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2014 2015
dbSNP: rs200449517
rs200449517 		1.000 0.080 2 151519656 splice donor variant A/G snv 9.3E-05 9.1E-05
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2014 2017
dbSNP: rs375628303
rs375628303 		1.000 0.080 2 151679720 splice donor variant C/A;G;T snv 4.0E-06; 4.0E-06; 4.0E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2006 2014
dbSNP: rs398124172
rs398124172 		1.000 0.080 2 151643269 frameshift variant CTCGTTTATTT/- del
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2006 2014
dbSNP: rs555445835
rs555445835 		0.925 0.080 2 151494212 frameshift variant AG/- del 8.3E-06 1.4E-05
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2014 2015
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: 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: 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: 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