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rs748277951

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs748277951(A;G)
Make rs748277951(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position3967651
GeneSTIM1
is asnp
is mentioned by
dbSNPrs748277951
ebirs748277951
HLIrs748277951
Exacrs748277951
Varsomers748277951
Maprs748277951
PheGenIrs748277951
hapmaprs748277951
1000 genomesrs748277951
hgdprs748277951
ensemblrs748277951
gopubmedrs748277951
geneviewrs748277951
scholarrs748277951
googlers748277951
pharmgkbrs748277951
gwascentralrs748277951
openSNPrs748277951
23andMers748277951
23andMe allrs748277951
SNP Nexus

SNPshotrs748277951
SNPdbers748277951
MSV3drs748277951
GWAS Ctlgrs748277951
Max Magnitude0
ClinVar
Risk rs748277951(C,G;C,G)
Alt rs748277951(C,G;C,G)
Reference rs748277951(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.3988881A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000169764.3,