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rs1057519505

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519505(C;T)
Make rs1057519505(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position4083300
GeneSTIM1
is asnp
is mentioned by
dbSNPrs1057519505
dbSNP (old)rs1057519505
ClinGenrs1057519505
ebirs1057519505
HLIrs1057519505
Exacrs1057519505
Gnomadrs1057519505
Varsomers1057519505
Maprs1057519505
PheGenIrs1057519505
Biobankrs1057519505
1000 genomesrs1057519505
hgdprs1057519505
ensemblrs1057519505
gopubmedrs1057519505
geneviewrs1057519505
scholarrs1057519505
googlers1057519505
pharmgkbrs1057519505
gwascentralrs1057519505
openSNPrs1057519505
23andMers1057519505
23andMe allrs1057519505
SNPshotrs1057519505
SNPdbers1057519505
MSV3drs1057519505
GWAS Ctlgrs1057519505
Max Magnitude0
ClinVar
Risk rs1057519505(T;T)
Alt rs1057519505(T;T)
Reference Rs1057519505(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.4104530C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000416561.1,