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rs527236030

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs527236030(A;T)
Make rs527236030(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position4023945
GeneSTIM1
is asnp
is mentioned by
dbSNPrs527236030
ebirs527236030
HLIrs527236030
Exacrs527236030
Varsomers527236030
Maprs527236030
PheGenIrs527236030
hapmaprs527236030
1000 genomesrs527236030
hgdprs527236030
ensemblrs527236030
gopubmedrs527236030
geneviewrs527236030
scholarrs527236030
googlers527236030
pharmgkbrs527236030
gwascentralrs527236030
openSNPrs527236030
23andMers527236030
23andMe allrs527236030
SNP Nexus

SNPshotrs527236030
SNPdbers527236030
MSV3drs527236030
GWAS Ctlgrs527236030
Max Magnitude0
ClinVar
Risk rs527236030(T;T)
Alt rs527236030(T;T)
Reference rs527236030(A;A)
Significance Pathogenic
Disease not provided Myopathy with tubular aggregates Stormorken syndrome
Variation info
Gene STIM1
CLNDBN not provided Myopathy with tubular aggregates Stormorken syndrome
Reversed 0
HGVS NC_000011.9:g.4045175A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000132725.1, RCV000144069.4, RCV000169763.4,