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rs786204478

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786204478(C;C)
Make rs786204478(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome21
Position44287135
GeneAIRE
is asnp
is mentioned by
dbSNPrs786204478
ebirs786204478
HLIrs786204478
Exacrs786204478
Varsomers786204478
Maprs786204478
PheGenIrs786204478
hapmaprs786204478
1000 genomesrs786204478
hgdprs786204478
ensemblrs786204478
gopubmedrs786204478
geneviewrs786204478
scholarrs786204478
googlers786204478
pharmgkbrs786204478
gwascentralrs786204478
openSNPrs786204478
23andMers786204478
23andMe allrs786204478
SNP Nexus

SNPshotrs786204478
SNPdbers786204478
MSV3drs786204478
GWAS Ctlgrs786204478
Max Magnitude0
ClinVar
Risk rs786204478(C;C)
Alt rs786204478(C;C)
Reference rs786204478(T;T)
Significance Probable-Pathogenic
Disease Polyglandular autoimmune syndrome
Variation info
Gene AIRE
CLNDBN Polyglandular autoimmune syndrome, type 1
Reversed 0
HGVS NC_000021.8:g.45707018T>C
CLNSRC
CLNACC RCV000169131.1,