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rs1057519506

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519506(C;C)
Make rs1057519506(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position3967633
GeneSTIM1
is asnp
is mentioned by
dbSNPrs1057519506
dbSNP (old)rs1057519506
ClinGenrs1057519506
ebirs1057519506
HLIrs1057519506
Exacrs1057519506
Gnomadrs1057519506
Varsomers1057519506
Maprs1057519506
PheGenIrs1057519506
Biobankrs1057519506
1000 genomesrs1057519506
hgdprs1057519506
ensemblrs1057519506
gopubmedrs1057519506
geneviewrs1057519506
scholarrs1057519506
googlers1057519506
pharmgkbrs1057519506
gwascentralrs1057519506
openSNPrs1057519506
23andMers1057519506
23andMe allrs1057519506
SNPshotrs1057519506
SNPdbers1057519506
MSV3drs1057519506
GWAS Ctlgrs1057519506
Max Magnitude0
ClinVar
Risk rs1057519506(C;C)
Alt rs1057519506(C;C)
Reference Rs1057519506(T;T)
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.3988863T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000416560.1,