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rs587777528

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777528(C;T)
Make rs587777528(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position121641471
GeneORAI1
is asnp
is mentioned by
dbSNPrs587777528
ebirs587777528
HLIrs587777528
Exacrs587777528
Varsomers587777528
Maprs587777528
PheGenIrs587777528
hapmaprs587777528
1000 genomesrs587777528
hgdprs587777528
ensemblrs587777528
gopubmedrs587777528
geneviewrs587777528
scholarrs587777528
googlers587777528
pharmgkbrs587777528
gwascentralrs587777528
openSNPrs587777528
23andMers587777528
23andMe allrs587777528
SNP Nexus

SNPshotrs587777528
SNPdbers587777528
MSV3drs587777528
GWAS Ctlgrs587777528
Max Magnitude0
ClinVar
Risk rs587777528(T;T)
Alt rs587777528(T;T)
Reference rs587777528(C;C)
Significance Pathogenic
Disease Myopathy
Variation info
Gene ORAI1
CLNDBN Myopathy, tubular aggregate, 2
Reversed 0
HGVS NC_000012.11:g.122079377C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000128581.3,