rs121434257

Orientation

plus

Stabilized

plus

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

Make rs121434257(G;T)

Make rs121434257(T;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

44289686

Gene

AIRE

is a	snp
is	mentioned by
dbSNP	rs121434257
dbSNP (classic)	rs121434257
ClinGen	rs121434257
ebi	rs121434257
HLI	rs121434257
Exac	rs121434257
Gnomad	rs121434257
Varsome	rs121434257
LitVar	rs121434257
Map	rs121434257
PheGenI	rs121434257
Biobank	rs121434257
1000 genomes	rs121434257
hgdp	rs121434257
ensembl	rs121434257
geneview	rs121434257
scholar	rs121434257
google	rs121434257
pharmgkb	rs121434257
gwascentral	rs121434257
openSNP	rs121434257
23andMe	rs121434257
SNPshot	rs121434257
SNPdbe	rs121434257
MSV3d	rs121434257
GWAS Ctlg	rs121434257

Max Magnitude

0

OMIM	607358
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121434257(A;A) rs121434257(T;T)
Alt	rs121434257(A;A) rs121434257(T;T)
Reference	Rs121434257(G;G)
Significance	Pathogenic
Disease	Autoimmune polyglandular syndrome type 1
Variation	info
Gene	AIRE
CLNDBN	Autoimmune polyglandular syndrome type 1, autosomal dominant
Reversed	0
HGVS	NC_000021.8:g.45709569G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003477.2,