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rs118203993

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203993(C;T)
Make rs118203993(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position121627018
GeneORAI1
is asnp
is mentioned by
dbSNPrs118203993
ebirs118203993
HLIrs118203993
Exacrs118203993
Varsomers118203993
Maprs118203993
PheGenIrs118203993
hapmaprs118203993
1000 genomesrs118203993
hgdprs118203993
ensemblrs118203993
gopubmedrs118203993
geneviewrs118203993
scholarrs118203993
googlers118203993
pharmgkbrs118203993
gwascentralrs118203993
openSNPrs118203993
23andMers118203993
23andMe allrs118203993
SNP Nexus

SNPshotrs118203993
SNPdbers118203993
MSV3drs118203993
GWAS Ctlgrs118203993
Max Magnitude0
OMIM610277
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118203993(T;T)
Alt rs118203993(T;T)
Reference rs118203993(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.122064924C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001346.6,