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: rs13013209
rs13013209 		2 151643935 missense variant C/G snv 0.42 0.35
CUI: C0201973
Disease: Creatine kinase measurement
Creatine kinase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs770992098
rs770992098 		1.000 0.080 2 151724954 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs770992098
rs770992098 		1.000 0.080 2 151724954 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C3714534
Disease: dowling-degos disease
dowling-degos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
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: 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 1988 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: rs4664475
rs4664475 		2 151531039 synonymous variant T/C snv 0.59 0.55
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs769345284
rs769345284 		0.882 0.280 2 151537898 stop gained G/A snv 3.2E-05
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1204386347
rs1204386347 		1.000 0.080 2 151724877 missense variant C/A snv 4.0E-06
CUI: C3711377
Disease: Intranuclear Rod Myopathy
Intranuclear Rod Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs34368668
rs34368668 		2 151506970 missense variant G/A snv 2.8E-03 1.1E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
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: 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: 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: rs549794342
rs549794342 		0.925 0.120 2 151501423 stop gained G/A snv 2.7E-04 3.0E-04
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
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: 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: 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: 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: 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: 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