rs72650677

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs72650677(C;T)

Make rs72650677(T;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

44293832

Gene

AIRE

is a	snp
is	mentioned by
dbSNP	rs72650677
dbSNP (classic)	rs72650677
ClinGen	rs72650677
ebi	rs72650677
HLI	rs72650677
Exac	rs72650677
Gnomad	rs72650677
Varsome	rs72650677
LitVar	rs72650677
Map	rs72650677
PheGenI	rs72650677
Biobank	rs72650677
1000 genomes	rs72650677
hgdp	rs72650677
ensembl	rs72650677
geneview	rs72650677
scholar	rs72650677
google	rs72650677
pharmgkb	rs72650677
gwascentral	rs72650677
openSNP	rs72650677
23andMe	rs72650677
SNPshot	rs72650677
SNPdbe	rs72650677
MSV3d	rs72650677
GWAS Ctlg	rs72650677

Max Magnitude

0

aka c.1322C>T (p.Thr441Met or T441M); note uncertain significance in ClinVar

ClinVar
Risk	rs72650677(T;T)
Alt	rs72650677(T;T)
Reference	Rs72650677(C;C)
Significance	Probable-Pathogenic
Disease	Polyglandular autoimmune syndrome
Variation	info
Gene	AIRE
CLNDBN	Polyglandular autoimmune syndrome, type 1
Reversed	0
HGVS	NC_000021.8:g.45713715C>T
CLNSRC	ClinVar
CLNACC	RCV000029308.1,

[PMID 17101293] AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis.