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: rs1197561990
rs1197561990 		0.925 0.080 2 151664609 splice acceptor variant C/G;T snv 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 12 1988 2017
dbSNP: rs1197561990
rs1197561990 		0.925 0.080 2 151664609 splice acceptor variant C/G;T snv 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 1988 2017
dbSNP: rs201553266
rs201553266 		0.882 0.080 2 151551738 splice region variant C/T snv 2.8E-05 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 12 1988 2017
dbSNP: rs201553266
rs201553266 		0.882 0.080 2 151551738 splice region variant C/T snv 2.8E-05 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 1988 2017
dbSNP: rs755531536
rs755531536 		0.925 0.080 2 151694370 frameshift variant C/- del 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 12 1988 2017
dbSNP: rs755531536
rs755531536 		0.925 0.080 2 151694370 frameshift variant C/- del 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 1988 2017
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: rs1458048713
rs1458048713 		0.925 0.080 2 151499299 stop gained G/A;T snv 7.3E-06; 3.6E-05
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2004 2016
dbSNP: rs191579691
rs191579691 		0.925 0.080 2 151561212 missense variant C/A;T snv 5.9E-05; 8.4E-06
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 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: rs750900690
rs750900690 		1.000 0.080 2 151527528 stop gained G/A snv 8.1E-06
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2002 2015
dbSNP: rs760200697
rs760200697 		1.000 0.080 2 151491697 stop gained A/C snv 4.5E-06
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2002 2015
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: rs748922882
rs748922882 		0.925 0.080 2 151525265 stop gained G/C;T snv 8.0E-06
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2002 2006
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: rs1344099907
rs1344099907 		0.925 0.080 2 151497028 splice acceptor variant -/AACA;ACA delins
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2014 2015
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