rs1057516314

Orientation

plus

Stabilized

plus

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

Make rs1057516314(AG;C)

Make rs1057516314(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

21

Position

44287127

Gene

AIRE

is a	snp
is	mentioned by
dbSNP	rs1057516314
dbSNP (classic)	rs1057516314
ClinGen	rs1057516314
ebi	rs1057516314
HLI	rs1057516314
Exac	rs1057516314
Gnomad	rs1057516314
Varsome	rs1057516314
LitVar	rs1057516314
Map	rs1057516314
PheGenI	rs1057516314
Biobank	rs1057516314
1000 genomes	rs1057516314
hgdp	rs1057516314
ensembl	rs1057516314
geneview	rs1057516314
scholar	rs1057516314
google	rs1057516314
pharmgkb	rs1057516314
gwascentral	rs1057516314
openSNP	rs1057516314
23andMe	rs1057516314
SNPshot	rs1057516314
SNPdbe	rs1057516314
MSV3d	rs1057516314
GWAS Ctlg	rs1057516314

Max Magnitude

0

ClinVar
Risk	rs1057516314(C;C)
Alt	rs1057516314(C;C)
Reference	Rs1057516314(AG;AG)
Significance	Probable-Pathogenic
Disease	Polyglandular autoimmune syndrome
Variation	info
Gene	AIRE
CLNDBN	Polyglandular autoimmune syndrome, type 1
Reversed	0
HGVS	NC_000021.8:g.45707010_45707011delAGinsC
CLNSRC
CLNACC	RCV000409403.1,