rs1057516272

Orientation

plus

Stabilized

plus

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

Make rs1057516272(G;T)

Make rs1057516272(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

21

Position

44286581

Gene

AIRE

is a	snp
is	mentioned by
dbSNP	rs1057516272
dbSNP (classic)	rs1057516272
ClinGen	rs1057516272
ebi	rs1057516272
HLI	rs1057516272
Exac	rs1057516272
Gnomad	rs1057516272
Varsome	rs1057516272
LitVar	rs1057516272
Map	rs1057516272
PheGenI	rs1057516272
Biobank	rs1057516272
1000 genomes	rs1057516272
hgdp	rs1057516272
ensembl	rs1057516272
geneview	rs1057516272
scholar	rs1057516272
google	rs1057516272
pharmgkb	rs1057516272
gwascentral	rs1057516272
openSNP	rs1057516272
23andMe	rs1057516272
SNPshot	rs1057516272
SNPdbe	rs1057516272
MSV3d	rs1057516272
GWAS Ctlg	rs1057516272

Max Magnitude

0

ClinVar
Risk	rs1057516272(T;T)
Alt	rs1057516272(T;T)
Reference	Rs1057516272(G;G)
Significance	Probable-Pathogenic
Disease	Polyglandular autoimmune syndrome
Variation	info
Gene	AIRE
CLNDBN	Polyglandular autoimmune syndrome, type 1
Reversed	0
HGVS	NC_000021.8:g.45706464G>T
CLNSRC
CLNACC	RCV000411673.1,