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rs6711382

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(G;G) 0 common in complete genomics
Make rs6711382(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position151674563
GeneNEB
is asnp
is mentioned by
dbSNPrs6711382
ebirs6711382
HLIrs6711382
Exacrs6711382
Varsomers6711382
Maprs6711382
PheGenIrs6711382
hapmaprs6711382
1000 genomesrs6711382
hgdprs6711382
ensemblrs6711382
gopubmedrs6711382
geneviewrs6711382
scholarrs6711382
googlers6711382
pharmgkbrs6711382
gwascentralrs6711382
openSNPrs6711382
23andMers6711382
23andMe allrs6711382
SNP Nexus

SNPshotrs6711382
SNPdbers6711382
MSV3drs6711382
GWAS Ctlgrs6711382
GMAF0.2599
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene NEB
allele G
frequency 0.9
sift TOLERATED
HuRef 1103658254516
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-Y1301H
aa_change Tyr1301His
aa_change_short Y1301H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.819835
summary



ClinVar
Risk rs6711382(G;G)
Alt rs6711382(G;G)
Reference rs6711382(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene NEB
CLNDBN not specified
Reversed 0
HGVS NC_000002.11:g.152531077A>G
CLNSRC
CLNACC RCV000153548.3,