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rs397514677

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514677(A;G)
Make rs397514677(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position4023928
GeneSTIM1
is asnp
is mentioned by
dbSNPrs397514677
ebirs397514677
HLIrs397514677
Exacrs397514677
Varsomers397514677
Maprs397514677
PheGenIrs397514677
hapmaprs397514677
1000 genomesrs397514677
hgdprs397514677
ensemblrs397514677
gopubmedrs397514677
geneviewrs397514677
scholarrs397514677
googlers397514677
pharmgkbrs397514677
gwascentralrs397514677
openSNPrs397514677
23andMers397514677
23andMe allrs397514677
SNP Nexus

SNPshotrs397514677
SNPdbers397514677
MSV3drs397514677
GWAS Ctlgrs397514677
Max Magnitude0
ClinVar
Risk rs397514677(G;G)
Alt rs397514677(G;G)
Reference rs397514677(A;A)
Significance Pathogenic
Disease Myopathy with tubular aggregates
Variation info
Gene STIM1
CLNDBN Myopathy with tubular aggregates
Reversed 0
HGVS NC_000011.9:g.4045158A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000034367.6,