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rs6713162

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 0
Make rs6713162(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position151640012
GeneNEB
is asnp
is mentioned by
dbSNPrs6713162
ebirs6713162
HLIrs6713162
Exacrs6713162
Varsomers6713162
Maprs6713162
PheGenIrs6713162
hapmaprs6713162
1000 genomesrs6713162
hgdprs6713162
ensemblrs6713162
gopubmedrs6713162
geneviewrs6713162
scholarrs6713162
googlers6713162
pharmgkbrs6713162
gwascentralrs6713162
openSNPrs6713162
23andMers6713162
23andMe allrs6713162
SNP Nexus

SNPshotrs6713162
SNPdbers6713162
MSV3drs6713162
GWAS Ctlgrs6713162
GMAF0.4151
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene NEB
allele G
frequency
sift TOLERATED
HuRef 1103658254469
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-S2912P
aa_change Ser2912Pro
aa_change_short S2912P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.298105
summary



ClinVar
Risk rs6713162(G;G)
Alt rs6713162(G;G)
Reference rs6713162(A;A)
Significance Other
Disease not specified
Variation info
Gene NEB
CLNDBN not specified
Reversed 0
HGVS NC_000002.11:g.152496526A>G
CLNSRC ClinVar University of Chicago
CLNACC RCV000117776.3,