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rs397514676

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514676(A;A)
Make rs397514676(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position4023927
GeneSTIM1
is asnp
is mentioned by
dbSNPrs397514676
ebirs397514676
HLIrs397514676
Exacrs397514676
Varsomers397514676
Maprs397514676
PheGenIrs397514676
hapmaprs397514676
1000 genomesrs397514676
hgdprs397514676
ensemblrs397514676
gopubmedrs397514676
geneviewrs397514676
scholarrs397514676
googlers397514676
pharmgkbrs397514676
gwascentralrs397514676
openSNPrs397514676
23andMers397514676
23andMe allrs397514676
SNP Nexus

SNPshotrs397514676
SNPdbers397514676
MSV3drs397514676
GWAS Ctlgrs397514676
Max Magnitude0
ClinVar
Risk rs397514676(A;A)
Alt rs397514676(A;A)
Reference rs397514676(C;C)
Significance Pathogenic
Disease Myopathy with tubular aggregates
Variation info
Gene STIM1
CLNDBN Myopathy with tubular aggregates
Reversed 0
HGVS NC_000011.9:g.4045157C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000034366.6,