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rs786205891

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786205891(C;C)
Make rs786205891(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position121641318
GeneORAI1
is asnp
is mentioned by
dbSNPrs786205891
ebirs786205891
HLIrs786205891
Exacrs786205891
Varsomers786205891
Maprs786205891
PheGenIrs786205891
hapmaprs786205891
1000 genomesrs786205891
hgdprs786205891
ensemblrs786205891
gopubmedrs786205891
geneviewrs786205891
scholarrs786205891
googlers786205891
pharmgkbrs786205891
gwascentralrs786205891
openSNPrs786205891
23andMers786205891
23andMe allrs786205891
SNP Nexus

SNPshotrs786205891
SNPdbers786205891
MSV3drs786205891
GWAS Ctlgrs786205891
Max Magnitude0
ClinVar
Risk rs786205891(C;C)
Alt rs786205891(C;C)
Reference rs786205891(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_000012.12:g.121641318T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000172860.1,