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rs786205890

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205890(A;A)
Make rs786205890(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position121641045
GeneORAI1
is asnp
is mentioned by
dbSNPrs786205890
ebirs786205890
HLIrs786205890
Exacrs786205890
Varsomers786205890
Maprs786205890
PheGenIrs786205890
hapmaprs786205890
1000 genomesrs786205890
hgdprs786205890
ensemblrs786205890
gopubmedrs786205890
geneviewrs786205890
scholarrs786205890
googlers786205890
pharmgkbrs786205890
gwascentralrs786205890
openSNPrs786205890
23andMers786205890
23andMe allrs786205890
SNP Nexus

SNPshotrs786205890
SNPdbers786205890
MSV3drs786205890
GWAS Ctlgrs786205890
Max Magnitude0
ClinVar
Risk rs786205890(A;A)
Alt rs786205890(A;A)
Reference rs786205890(C;C)
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.122078951C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000172859.2,