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rs199612115

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199612115(G;T)
Make rs199612115(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position44288459
GeneAIRE
is asnp
is mentioned by
dbSNPrs199612115
dbSNP (old)rs199612115
ClinGenrs199612115
ebirs199612115
HLIrs199612115
Exacrs199612115
Gnomadrs199612115
Varsomers199612115
LitVarrs199612115
Maprs199612115
PheGenIrs199612115
Biobankrs199612115
1000 genomesrs199612115
hgdprs199612115
ensemblrs199612115
gopubmedrs199612115
geneviewrs199612115
scholarrs199612115
googlers199612115
pharmgkbrs199612115
gwascentralrs199612115
openSNPrs199612115
23andMers199612115
23andMe allrs199612115
SNPshotrs199612115
SNPdbers199612115
MSV3drs199612115
GWAS Ctlgrs199612115
Max Magnitude0
ClinVar
Risk rs199612115(T;T)
Alt rs199612115(T;T)
Reference Rs199612115(G;G)
Significance Probable-Pathogenic
Disease Polyglandular autoimmune syndrome
Variation info
Gene AIRE
CLNDBN Polyglandular autoimmune syndrome, type 1
Reversed 0
HGVS NC_000021.8:g.45708342G>T
CLNSRC
CLNACC RCV000409920.1,