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rs397514671

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514671(C;T)
Make rs397514671(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position4083309
GeneSTIM1
is asnp
is mentioned by
dbSNPrs397514671
ebirs397514671
HLIrs397514671
Exacrs397514671
Varsomers397514671
Maprs397514671
PheGenIrs397514671
hapmaprs397514671
1000 genomesrs397514671
hgdprs397514671
ensemblrs397514671
gopubmedrs397514671
geneviewrs397514671
scholarrs397514671
googlers397514671
pharmgkbrs397514671
gwascentralrs397514671
openSNPrs397514671
23andMers397514671
23andMe allrs397514671
SNP Nexus

SNPshotrs397514671
SNPdbers397514671
MSV3drs397514671
GWAS Ctlgrs397514671
Max Magnitude0
ClinVar
Risk rs397514671(T;T)
Alt rs397514671(T;T)
Reference rs397514671(C;C)
Significance Pathogenic
Disease Immune dysfunction with T-cell inactivation due to calcium entry defect 2
Variation info
Gene STIM1
CLNDBN Immune dysfunction with T-cell inactivation due to calcium entry defect 2
Reversed 0
HGVS NC_000011.9:g.4104539C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000034350.5,