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rs483352867

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs483352867(C;T)
Make rs483352867(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position4074620
GeneSTIM1
is asnp
is mentioned by
dbSNPrs483352867
ebirs483352867
HLIrs483352867
Exacrs483352867
Varsomers483352867
Maprs483352867
PheGenIrs483352867
hapmaprs483352867
1000 genomesrs483352867
hgdprs483352867
ensemblrs483352867
gopubmedrs483352867
geneviewrs483352867
scholarrs483352867
googlers483352867
pharmgkbrs483352867
gwascentralrs483352867
openSNPrs483352867
23andMers483352867
23andMe allrs483352867
SNP Nexus

SNPshotrs483352867
SNPdbers483352867
MSV3drs483352867
GWAS Ctlgrs483352867
Max Magnitude0
ClinVar
Risk rs483352867(T;T)
Alt rs483352867(T;T)
Reference rs483352867(C;C)
Significance Pathogenic
Disease Stormorken syndrome
Variation info
Gene STIM1
CLNDBN Stormorken syndrome
Reversed 0
HGVS NC_000011.9:g.4095850C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000128580.5,