NEB, nebulin, 4703

N. diseases: 148; N. variants: 280
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10182296
rs10182296
Entrez Id: 4703;55183
Gene Symbol: NEB;RIF1
NEB;RIF1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs13013209
rs13013209
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0201973
Disease:
Creatine kinase measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs1559154278
rs1559154278
Entrez Id: 4703;55183
Gene Symbol: NEB;RIF1
NEB;RIF1
CUI: C1850569
Disease:
Nemaline Myopathy 2 		0.700 CausalMutation CLINVAR
dbSNP: rs34368668
rs34368668
Entrez Id: 4703;55183
Gene Symbol: NEB;RIF1
NEB;RIF1
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs34368668
rs34368668
Entrez Id: 4703;55183
Gene Symbol: NEB;RIF1
NEB;RIF1
CUI: C0428474
Disease:
Serum LDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs1204386347
rs1204386347
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C3711377
Disease:
Intranuclear Rod Myopathy 		0.010 GeneticVariation BEFREE V163L and V163M actin mutants are known to cause intranuclear rod myopathy, however, intranuclear bodies were not reported in patient R183G. 15198992 2004
dbSNP: rs770992098
rs770992098
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0008073
Disease:
Developmental Disabilities 		0.010 GeneticVariation BEFREE First, scrutiny of exomes from 9624 patients recruited by the Deciphering Developmental Disorders (DDDs) study uncovered six dominantly-acting mutations (p.R97L; p.Y136C; p.Y136H, p.N145I, p.S244C; p.G248R) of which five arose de novo, and three patients with compound-heterozygous variants (p.R210*/p.V579M; p.R210*/p.D531N; c.1149+1G>T/p.R688C). 30859559 2019
dbSNP: rs770992098
rs770992098
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C3714534
Disease:
dowling-degos disease 		0.010 GeneticVariation BEFREE First, scrutiny of exomes from 9624 patients recruited by the Deciphering Developmental Disorders (DDDs) study uncovered six dominantly-acting mutations (p.R97L; p.Y136C; p.Y136H, p.N145I, p.S244C; p.G248R) of which five arose de novo, and three patients with compound-heterozygous variants (p.R210*/p.V579M; p.R210*/p.D531N; c.1149+1G>T/p.R688C). 30859559 2019
dbSNP: rs1011425121
rs1011425121
Entrez Id: 4703;55183
Gene Symbol: NEB;RIF1
NEB;RIF1
CUI: C1850569
Disease:
Nemaline Myopathy 2 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs10186482
rs10186482
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0017654
Disease:
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
dbSNP: rs1057516381
rs1057516381
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease:
Nemaline Myopathy 2 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516676
rs1057516676
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease:
Nemaline Myopathy 2 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516938
rs1057516938
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease:
Nemaline Myopathy 2 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517360
rs1057517360
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease:
Nemaline Myopathy 2 		A 0.700 GeneticVariation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138 2014
dbSNP: rs1057517977
rs1057517977
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease:
Nemaline Myopathy 2 		A 0.700 GeneticVariation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138 2014
dbSNP: rs111300270
rs111300270
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease:
Nemaline Myopathy 2 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs112544116
rs112544116
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease:
Nemaline Myopathy 2 		A 0.700 GeneticVariation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138 2014
dbSNP: rs1218073575
rs1218073575
Entrez Id: 4703;55183
Gene Symbol: NEB;RIF1
NEB;RIF1
CUI: C1850569
Disease:
Nemaline Myopathy 2 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs121913662
rs121913662
Entrez Id: 4703;55183
Gene Symbol: NEB;RIF1
NEB;RIF1
CUI: C1850569
Disease:
Nemaline Myopathy 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1255445731
rs1255445731
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease:
Nemaline Myopathy 2 		A 0.700 GeneticVariation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138 2014
dbSNP: rs1266535163
rs1266535163
Entrez Id: 4703;55183
Gene Symbol: NEB;RIF1
NEB;RIF1
CUI: C1850569
Disease:
Nemaline Myopathy 2 		A 0.700 GeneticVariation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138 2014
dbSNP: rs1336053002
rs1336053002
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease:
Nemaline Myopathy 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1423137705
rs1423137705
Entrez Id: 4703;55183
Gene Symbol: NEB;RIF1
NEB;RIF1
CUI: C1850569
Disease:
Nemaline Myopathy 2 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1446930968
rs1446930968
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease:
Nemaline Myopathy 2 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1475648900
rs1475648900
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease:
Nemaline Myopathy 2 		A 0.700 CausalMutation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138 2014