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rs7426114

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 0
Make rs7426114(C;C)
Make rs7426114(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position151671058
GeneNEB
is asnp
is mentioned by
dbSNPrs7426114
ebirs7426114
HLIrs7426114
Exacrs7426114
Varsomers7426114
Maprs7426114
PheGenIrs7426114
hapmaprs7426114
1000 genomesrs7426114
hgdprs7426114
ensemblrs7426114
gopubmedrs7426114
geneviewrs7426114
scholarrs7426114
googlers7426114
pharmgkbrs7426114
gwascentralrs7426114
openSNPrs7426114
23andMers7426114
23andMe allrs7426114
SNP Nexus

SNPshotrs7426114
SNPdbers7426114
MSV3drs7426114
GWAS Ctlgrs7426114
GMAF0.4302
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene NEB
allele T
frequency
sift TOLERATED
HuRef 1103658254510
Disease Association Defects in NEB are the cause of nemaline myopathy type 2 (NEM2) (MIM:256030). Nemaline myopathy (MIM:161800) is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination. The clinical phenotype is highly variable, with differing age at onset and severity. NEM2 inheritance is autosomal recessive.



GET Evidence
NEB-V1491M
aa_change Val1491Met
aa_change_short V1491M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.660012
summary



ClinVar
Risk rs7426114(T;T)
Alt rs7426114(T;T)
Reference rs7426114(C;C)
Significance Other
Disease not specified
Variation info
Gene NEB
CLNDBN not specified
Reversed 0
HGVS NC_000002.11:g.152527572C>T
CLNSRC ClinVar Emory University University of Chicago
CLNACC RCV000081137.8,