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rs140630532

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs140630532(C;T)
Make rs140630532(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position44286698
GeneAIRE
is asnp
is mentioned by
dbSNPrs140630532
dbSNP (classic)rs140630532
ClinGenrs140630532
ebirs140630532
HLIrs140630532
Exacrs140630532
Gnomadrs140630532
Varsomers140630532
LitVarrs140630532
Maprs140630532
PheGenIrs140630532
Biobankrs140630532
1000 genomesrs140630532
hgdprs140630532
ensemblrs140630532
geneviewrs140630532
scholarrs140630532
googlers140630532
pharmgkbrs140630532
gwascentralrs140630532
openSNPrs140630532
23andMers140630532
SNPshotrs140630532
SNPdbers140630532
MSV3drs140630532
GWAS Ctlgrs140630532
Max Magnitude0
ClinVar
Risk rs140630532(T;T)
Alt rs140630532(T;T)
Reference Rs140630532(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene AIRE
CLNDBN not provided
Reversed 0
HGVS NC_000021.8:g.45706581C>T
CLNSRC
CLNACC RCV000425106.1,