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rs782753385

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs782753385(C;C)
Make rs782753385(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position121641318
GeneORAI1
is asnp
is mentioned by
dbSNPrs782753385
ebirs782753385
HLIrs782753385
Exacrs782753385
Varsomers782753385
Maprs782753385
PheGenIrs782753385
hapmaprs782753385
1000 genomesrs782753385
hgdprs782753385
ensemblrs782753385
gopubmedrs782753385
geneviewrs782753385
scholarrs782753385
googlers782753385
pharmgkbrs782753385
gwascentralrs782753385
openSNPrs782753385
23andMers782753385
23andMe allrs782753385
SNP Nexus

SNPshotrs782753385
SNPdbers782753385
MSV3drs782753385
GWAS Ctlgrs782753385
Max Magnitude0
ClinVar
Risk rs782753385(C;C)
Alt rs782753385(C;C)
Reference rs782753385(T;T)
Significance Pathogenic
Disease Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Variation info
Gene ORAI1
CLNDBN Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Reversed 0
HGVS NC_000012.11:g.122079224T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000172860.3,