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rs786204797

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204797(C;T)
Make rs786204797(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position121641149
GeneORAI1
is asnp
is mentioned by
dbSNPrs786204797
ebirs786204797
HLIrs786204797
Exacrs786204797
Varsomers786204797
Maprs786204797
PheGenIrs786204797
hapmaprs786204797
1000 genomesrs786204797
hgdprs786204797
ensemblrs786204797
gopubmedrs786204797
geneviewrs786204797
scholarrs786204797
googlers786204797
pharmgkbrs786204797
gwascentralrs786204797
openSNPrs786204797
23andMers786204797
23andMe allrs786204797
SNP Nexus

SNPshotrs786204797
SNPdbers786204797
MSV3drs786204797
GWAS Ctlgrs786204797
Max Magnitude0
ClinVar
Risk rs786204797(T;T)
Alt rs786204797(T;T)
Reference rs786204797(C;C)
Significance Pathogenic
Disease Myopathy
Variation info
Gene ORAI1
CLNDBN Myopathy, tubular aggregate, 2
Reversed 0
HGVS NC_000012.11:g.122079055C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000169691.3,