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rs397515436

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515436(A;A)
Make rs397515436(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position3967628
GeneSTIM1
is asnp
is mentioned by
dbSNPrs397515436
ebirs397515436
HLIrs397515436
Exacrs397515436
Varsomers397515436
Maprs397515436
PheGenIrs397515436
hapmaprs397515436
1000 genomesrs397515436
hgdprs397515436
ensemblrs397515436
gopubmedrs397515436
geneviewrs397515436
scholarrs397515436
googlers397515436
pharmgkbrs397515436
gwascentralrs397515436
openSNPrs397515436
23andMers397515436
23andMe allrs397515436
SNP Nexus

SNPshotrs397515436
SNPdbers397515436
MSV3drs397515436
GWAS Ctlgrs397515436
Max Magnitude0
ClinVar
Risk rs397515436(A;A)
Alt rs397515436(A;A)
Reference rs397515436(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.3988858C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000034368.5,