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rs6735208

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0
Make rs6735208(A;T)
Make rs6735208(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position151679984
GeneNEB
is asnp
is mentioned by
dbSNPrs6735208
ebirs6735208
HLIrs6735208
Exacrs6735208
Varsomers6735208
Maprs6735208
PheGenIrs6735208
hapmaprs6735208
1000 genomesrs6735208
hgdprs6735208
ensemblrs6735208
gopubmedrs6735208
geneviewrs6735208
scholarrs6735208
googlers6735208
pharmgkbrs6735208
gwascentralrs6735208
openSNPrs6735208
23andMers6735208
23andMe allrs6735208
SNP Nexus

SNPshotrs6735208
SNPdbers6735208
MSV3drs6735208
GWAS Ctlgrs6735208
GMAF0.3811
Max Magnitude0
? (A;A) (A;T) (T;T) 28
Venter snp
Source plos
Gene NEB
allele A
frequency 0.22
sift TOLERATED
HuRef 1103658254522
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-K1027N
aa_change Lys1027Asn
aa_change_short K1027N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.700912
summary



ClinVar
Risk rs6735208(A;A)
Alt rs6735208(A;A)
Reference rs6735208(T;T)
Significance Other
Disease not specified
Variation info
Gene NEB
CLNDBN not specified
Reversed 0
HGVS NC_000002.11:g.152536498T>A
CLNSRC ClinVar Emory University University of Chicago
CLNACC RCV000081134.8,