rs1057516499

Orientation

plus

Stabilized

plus

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

Make rs1057516499(A;A)

Make rs1057516499(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

21

Position

44286657

Gene

AIRE

is a	snp
is	mentioned by
dbSNP	rs1057516499
dbSNP (classic)	rs1057516499
ClinGen	rs1057516499
ebi	rs1057516499
HLI	rs1057516499
Exac	rs1057516499
Gnomad	rs1057516499
Varsome	rs1057516499
LitVar	rs1057516499
Map	rs1057516499
PheGenI	rs1057516499
Biobank	rs1057516499
1000 genomes	rs1057516499
hgdp	rs1057516499
ensembl	rs1057516499
geneview	rs1057516499
scholar	rs1057516499
google	rs1057516499
pharmgkb	rs1057516499
gwascentral	rs1057516499
openSNP	rs1057516499
23andMe	rs1057516499
SNPshot	rs1057516499
SNPdbe	rs1057516499
MSV3d	rs1057516499
GWAS Ctlg	rs1057516499

Max Magnitude

0

ClinVar
Risk	rs1057516499(A;A)
Alt	rs1057516499(A;A)
Reference	Rs1057516499(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.45706540G>A
CLNSRC
CLNACC	RCV000409857.1,