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rs1800520

From SNPedia

Orientationplus
Stabilizedplus
Make rs1800520(C;C)
Make rs1800520(C;G)
Make rs1800520(G;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position44290023
GeneAIRE
is asnp
is mentioned by
dbSNPrs1800520
ebirs1800520
HLIrs1800520
Exacrs1800520
Varsomers1800520
Maprs1800520
PheGenIrs1800520
hapmaprs1800520
1000 genomesrs1800520
hgdprs1800520
ensemblrs1800520
gopubmedrs1800520
geneviewrs1800520
scholarrs1800520
googlers1800520
pharmgkbrs1800520
gwascentralrs1800520
openSNPrs1800520
23andMers1800520
23andMe allrs1800520
SNP Nexus

SNPshotrs1800520
SNPdbers1800520
MSV3drs1800520
GWAS Ctlgrs1800520
GMAF0.2296
Max Magnitude

[PMID 20363194] The role of AIRE polymorphisms in melanoma


[PMID 19758376] Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients.


GET Evidence
AIRE-S278R
aa_change Ser278Arg
aa_change_short S278R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.155053
summary



ClinVar
Risk rs1800520(G,T;G,T)
Alt rs1800520(G,T;G,T)
Reference rs1800520(C;C)
Significance Other
Disease not specified
Variation info
Gene AIRE
CLNDBN not specified
Reversed 0
HGVS NC_000021.8:g.45709906C>G
CLNSRC ClinVar University of Chicago
CLNACC RCV000116303.3,



[PMID 27264825] [Association of AIRE gene polymorphisms with susceptibility to rheumatoid arthritis among ethnic Han Chinese from Shaanxi].