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rs13013209

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;G) 0 common with no known negative consequences
Make rs13013209(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position151643935
GeneNEB
is asnp
is mentioned by
dbSNPrs13013209
ebirs13013209
HLIrs13013209
Exacrs13013209
Varsomers13013209
Maprs13013209
PheGenIrs13013209
hapmaprs13013209
1000 genomesrs13013209
hgdprs13013209
ensemblrs13013209
gopubmedrs13013209
geneviewrs13013209
scholarrs13013209
googlers13013209
pharmgkbrs13013209
gwascentralrs13013209
openSNPrs13013209
23andMers13013209
23andMe allrs13013209
SNP Nexus

SNPshotrs13013209
SNPdbers13013209
MSV3drs13013209
GWAS Ctlgrs13013209
GMAF0.3012
Max Magnitude0
? (C;C) (C;G) (G;G) 28


Venter snp
Source plos
Gene NEB
allele G
frequency
sift TOLERATED
HuRef 1103658254477
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-K2613S
aa_change Lys2613Ser
aa_change_short K2613S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.00793651
summary



ClinVar
Risk rs13013209(G;G)
Alt rs13013209(G;G)
Reference rs13013209(C;C)
Significance Other
Disease not specified
Variation info
Gene NEB
CLNDBN not specified
Reversed 0
HGVS NC_000002.11:g.152500449C>G
CLNSRC ClinVar Emory University University of Chicago
CLNACC RCV000081143.8,