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rs397515390

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515390(A;A)
Make rs397515390(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position4082183
GeneSTIM1
is asnp
is mentioned by
dbSNPrs397515390
ebirs397515390
HLIrs397515390
Exacrs397515390
Varsomers397515390
Maprs397515390
PheGenIrs397515390
hapmaprs397515390
1000 genomesrs397515390
hgdprs397515390
ensemblrs397515390
gopubmedrs397515390
geneviewrs397515390
scholarrs397515390
googlers397515390
pharmgkbrs397515390
gwascentralrs397515390
openSNPrs397515390
23andMers397515390
23andMe allrs397515390
SNP Nexus

SNPshotrs397515390
SNPdbers397515390
MSV3drs397515390
GWAS Ctlgrs397515390
Max Magnitude0
ClinVar
Risk rs397515390(A;A)
Alt rs397515390(A;A)
Reference rs397515390(G;G)
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.4103413G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023497.4,