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rs121913662

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913662(G;T)
Make rs121913662(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position151490495
GeneNEB
is asnp
is mentioned by
dbSNPrs121913662
ebirs121913662
HLIrs121913662
Exacrs121913662
Varsomers121913662
Maprs121913662
PheGenIrs121913662
hapmaprs121913662
1000 genomesrs121913662
hgdprs121913662
ensemblrs121913662
gopubmedrs121913662
geneviewrs121913662
scholarrs121913662
googlers121913662
pharmgkbrs121913662
gwascentralrs121913662
openSNPrs121913662
23andMers121913662
23andMe allrs121913662
SNP Nexus

SNPshotrs121913662
SNPdbers121913662
MSV3drs121913662
GWAS Ctlgrs121913662
Max Magnitude0
OMIM161650
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121913662(A,T;A,T)
Alt rs121913662(A,T;A,T)
Reference rs121913662(G;G)
Significance Pathogenic
Disease Nemaline myopathy 2
Variation info
Gene LOC101929336 NEB
CLNDBN Nemaline myopathy 2
Reversed 1
HGVS NC_000002.11:g.152347009C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015094.26,