rs121434255

Orientation

plus

Stabilized

plus

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

Make rs121434255(A;G)

Make rs121434255(G;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

44286671

Gene

AIRE

is a	snp
is	mentioned by
dbSNP	rs121434255
dbSNP (classic)	rs121434255
ClinGen	rs121434255
ebi	rs121434255
HLI	rs121434255
Exac	rs121434255
Gnomad	rs121434255
Varsome	rs121434255
LitVar	rs121434255
Map	rs121434255
PheGenI	rs121434255
Biobank	rs121434255
1000 genomes	rs121434255
hgdp	rs121434255
ensembl	rs121434255
geneview	rs121434255
scholar	rs121434255
google	rs121434255
pharmgkb	rs121434255
gwascentral	rs121434255
openSNP	rs121434255
23andMe	rs121434255
SNPshot	rs121434255
SNPdbe	rs121434255
MSV3d	rs121434255
GWAS Ctlg	rs121434255

Max Magnitude

0

OMIM	607358
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121434255(G;G)
Alt	rs121434255(G;G)
Reference	Rs121434255(A;A)
Significance	Pathogenic
Disease	Polyglandular autoimmune syndrome
Variation	info
Gene	AIRE
CLNDBN	Polyglandular autoimmune syndrome, type 1
Reversed	0
HGVS	NC_000021.8:g.45706554A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003471.2,