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rs398124167

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398124167(A;A)
Make rs398124167(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position151706880
GeneNEB
is asnp
is mentioned by
dbSNPrs398124167
ebirs398124167
HLIrs398124167
Exacrs398124167
Varsomers398124167
Maprs398124167
PheGenIrs398124167
hapmaprs398124167
1000 genomesrs398124167
hgdprs398124167
ensemblrs398124167
gopubmedrs398124167
geneviewrs398124167
scholarrs398124167
googlers398124167
pharmgkbrs398124167
gwascentralrs398124167
openSNPrs398124167
23andMers398124167
23andMe allrs398124167
SNP Nexus

SNPshotrs398124167
SNPdbers398124167
MSV3drs398124167
GWAS Ctlgrs398124167
Max Magnitude0
ClinVar
Risk rs398124167(A,T;A,T)
Alt rs398124167(A,T;A,T)
Reference rs398124167(G;G)
Significance Pathogenic
Disease not provided Nemaline myopathy 2
Variation info
Gene NEB
CLNDBN not provided Nemaline myopathy 2
Reversed 1
HGVS NC_000002.11:g.152563394C>T
CLNSRC HGMD
CLNACC RCV000081110.3, RCV000174538.1,