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rs397514675

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514675(A;G)
Make rs397514675(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position3967663
GeneSTIM1
is asnp
is mentioned by
dbSNPrs397514675
ebirs397514675
HLIrs397514675
Exacrs397514675
Varsomers397514675
Maprs397514675
PheGenIrs397514675
hapmaprs397514675
1000 genomesrs397514675
hgdprs397514675
ensemblrs397514675
gopubmedrs397514675
geneviewrs397514675
scholarrs397514675
googlers397514675
pharmgkbrs397514675
gwascentralrs397514675
openSNPrs397514675
23andMers397514675
23andMe allrs397514675
SNP Nexus

SNPshotrs397514675
SNPdbers397514675
MSV3drs397514675
GWAS Ctlgrs397514675
Max Magnitude0
ClinVar
Risk rs397514675(G;G)
Alt rs397514675(G;G)
Reference rs397514675(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.3988893A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000034365.4,