rs10182296
×
Entrez Id:
4703;55183
Gene Symbol:
NEB;RIF1
NEB;RIF1
Finding of Mean Corpuscular Hemoglobin
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs10186482
×
Entrez Id:
4703
Gene Symbol:
NEB
NEB
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
rs10432479
×
Entrez Id:
4703;55183
Gene Symbol:
NEB;RIF1
NEB;RIF1
Glomerular Filtration Rate
T
0.700
GeneticVariation
GWASCAT
A catalog of genetic loci associated with kidney function from analyses of a million individuals.
31152163
2019
rs4664475
×
Entrez Id:
4703;55183
Gene Symbol:
NEB;RIF1
NEB;RIF1
Glomerular Filtration Rate
T
0.700
GeneticVariation
GWASCAT
A catalog of genetic loci associated with kidney function from analyses of a million individuals.
31152163
2019
rs13013209
×
Entrez Id:
4703
Gene Symbol:
NEB
NEB
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
rs10174077
×
Entrez Id:
4703
Gene Symbol:
NEB
NEB
Squamous cell carcinoma of lung
T
0.700
GeneticVariation
GWASCAT
Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.
28604730
2017
rs1197561990
×
Entrez Id:
4703
Gene Symbol:
NEB
NEB
Dysmorphic features
G
0.700
GeneticVariation
CLINVAR
Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.
27933661
2017
rs1197561990
×
Entrez Id:
4703
Gene Symbol:
NEB
NEB
Muscle hypotonia
G
0.700
GeneticVariation
CLINVAR
Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.
27933661
2017
rs200449517
×
Entrez Id:
4703;55183
Gene Symbol:
NEB;RIF1
NEB;RIF1
Nemaline Myopathy 2
G
0.700
GeneticVariation
CLINVAR
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
28132693
2017
rs201553266
×
Entrez Id:
4703
Gene Symbol:
NEB
NEB
Multiple congenital anomalies
T
0.700
GeneticVariation
CLINVAR
Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.
27933661
2017
rs201553266
×
Entrez Id:
4703
Gene Symbol:
NEB
NEB
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.
27933661
2017
rs375145370
×
Entrez Id:
4703
Gene Symbol:
NEB
NEB
Nemaline Myopathy 2
C
0.700
GeneticVariation
CLINVAR
Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.
27933661
2017
rs755531536
×
Entrez Id:
4703
Gene Symbol:
NEB
NEB
Dysmorphic features
T
0.700
CausalMutation
CLINVAR
Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.
27933661
2017
rs755531536
×
Entrez Id:
4703
Gene Symbol:
NEB
NEB
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.
27933661
2017
rs1421095081
×
Entrez Id:
4703;55183
Gene Symbol:
NEB;RIF1
NEB;RIF1
Nemaline Myopathy 2
T
0.700
GeneticVariation
CLINVAR
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.
27357428
2016
rs1458048713
×
Entrez Id:
4703;55183
Gene Symbol:
NEB;RIF1
NEB;RIF1
Nemaline Myopathy 2
T
0.700
CausalMutation
CLINVAR
One in seven colorectal cancer patients is under 50, US study shows.
26809612
2016
rs1458048713
×
Entrez Id:
4703;55183
Gene Symbol:
NEB;RIF1
NEB;RIF1
Myopathies, Nemaline
T
0.700
GeneticVariation
CLINVAR
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.
26809617
2016
rs191579691
×
Entrez Id:
4703
Gene Symbol:
NEB
NEB
Nemaline Myopathy 2
A
0.700
CausalMutation
CLINVAR
A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.
26197980
2016
rs191579691
×
Entrez Id:
4703
Gene Symbol:
NEB
NEB
Myopathies, Nemaline
A
0.700
CausalMutation
CLINVAR
A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.
26197980
2016
rs201553266
×
Entrez Id:
4703
Gene Symbol:
NEB
NEB
Nemaline Myopathy 2
T
0.700
GeneticVariation
CLINVAR
New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.
26841830
2016
rs201553266
×
Entrez Id:
4703
Gene Symbol:
NEB
NEB
Myopathies, Nemaline
T
0.700
CausalMutation
CLINVAR
New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.
26841830
2016
rs747564597
×
Entrez Id:
4703;55183
Gene Symbol:
NEB;RIF1
NEB;RIF1
Nemaline Myopathy 2
C
0.700
CausalMutation
CLINVAR
A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.
26197980
2016
rs763364977
×
Entrez Id:
4703;55183
Gene Symbol:
NEB;RIF1
NEB;RIF1
Nemaline Myopathy 2
A
0.700
CausalMutation
CLINVAR
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.
27105866
2016
rs763364977
×
Entrez Id:
4703;55183
Gene Symbol:
NEB;RIF1
NEB;RIF1
Nemaline Myopathy 2
A
0.700
GeneticVariation
CLINVAR
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.
27105866
2016
rs769345284
×
Entrez Id:
4703
Gene Symbol:
NEB
NEB
Nemaline Myopathy 2
A
0.700
CausalMutation
CLINVAR
New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.
26841830
2016