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rs786204796

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204796(A;A)
Make rs786204796(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position121627039
GeneORAI1
is asnp
is mentioned by
dbSNPrs786204796
ebirs786204796
HLIrs786204796
Exacrs786204796
Varsomers786204796
Maprs786204796
PheGenIrs786204796
hapmaprs786204796
1000 genomesrs786204796
hgdprs786204796
ensemblrs786204796
gopubmedrs786204796
geneviewrs786204796
scholarrs786204796
googlers786204796
pharmgkbrs786204796
gwascentralrs786204796
openSNPrs786204796
23andMers786204796
23andMe allrs786204796
SNP Nexus

SNPshotrs786204796
SNPdbers786204796
MSV3drs786204796
GWAS Ctlgrs786204796
Max Magnitude0
ClinVar
Risk rs786204796(A;A)
Alt rs786204796(A;A)
Reference rs786204796(G;G)
Significance Pathogenic
Disease Myopathy
Variation info
Gene ORAI1
CLNDBN Myopathy, tubular aggregate, 2
Reversed 0
HGVS NC_000012.11:g.122064945G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000169690.3,