rs121434258

Orientation

plus

Stabilized

plus

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

Make rs121434258(A;T)

Make rs121434258(T;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

44286007

Gene

AIRE

is a	snp
is	mentioned by
dbSNP	rs121434258
dbSNP (classic)	rs121434258
ClinGen	rs121434258
ebi	rs121434258
HLI	rs121434258
Exac	rs121434258
Gnomad	rs121434258
Varsome	rs121434258
LitVar	rs121434258
Map	rs121434258
PheGenI	rs121434258
Biobank	rs121434258
1000 genomes	rs121434258
hgdp	rs121434258
ensembl	rs121434258
geneview	rs121434258
scholar	rs121434258
google	rs121434258
pharmgkb	rs121434258
gwascentral	rs121434258
openSNP	rs121434258
23andMe	rs121434258
SNPshot	rs121434258
SNPdbe	rs121434258
MSV3d	rs121434258
GWAS Ctlg	rs121434258

Max Magnitude

0

OMIM	607358
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121434258(G;G) rs121434258(T;T)
Alt	rs121434258(G;G) rs121434258(T;T)
Reference	Rs121434258(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.45705890A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003478.3,