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rs397515357

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs397515357(-;A)
Make rs397515357(A;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position4023983
GeneSTIM1
is asnp
is mentioned by
dbSNPrs397515357
dbSNP (classic)rs397515357
ClinGenrs397515357
ebirs397515357
HLIrs397515357
Exacrs397515357
Gnomadrs397515357
Varsomers397515357
LitVarrs397515357
Maprs397515357
PheGenIrs397515357
Biobankrs397515357
1000 genomesrs397515357
hgdprs397515357
ensemblrs397515357
geneviewrs397515357
scholarrs397515357
googlers397515357
pharmgkbrs397515357
gwascentralrs397515357
openSNPrs397515357
23andMers397515357
SNPshotrs397515357
SNPdbers397515357
MSV3drs397515357
GWAS Ctlgrs397515357
Max Magnitude0
ClinVar
Risk rs397515357(A;A)
Alt rs397515357(A;A)
Reference Rs397515357(-;-)
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.4045213dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000004976.6,