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rs386833673

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833673(A;T)
Make rs386833673(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position44297727
GeneAIRE
is asnp
is mentioned by
dbSNPrs386833673
ebirs386833673
HLIrs386833673
Exacrs386833673
Varsomers386833673
Maprs386833673
PheGenIrs386833673
hapmaprs386833673
1000 genomesrs386833673
hgdprs386833673
ensemblrs386833673
gopubmedrs386833673
geneviewrs386833673
scholarrs386833673
googlers386833673
pharmgkbrs386833673
gwascentralrs386833673
openSNPrs386833673
23andMers386833673
23andMe allrs386833673
SNP Nexus

SNPshotrs386833673
SNPdbers386833673
MSV3drs386833673
GWAS Ctlgrs386833673
Max Magnitude0
ClinVar
Risk rs386833673(T;T)
Alt rs386833673(T;T)
Reference rs386833673(A;A)
Significance Probable-Pathogenic
Disease Polyglandular autoimmune syndrome
Variation info
Gene AIRE
CLNDBN Polyglandular autoimmune syndrome, type 1
Reversed 0
HGVS NC_000021.8:g.45717610A>T
CLNSRC ClinVar
CLNACC RCV000049633.2,


[PMID 9717837] Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.


[PMID 10677297OA-icon.png] Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.