rs1057517254

Orientation

plus

Stabilized

plus

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

Make rs1057517254(-;-)

Make rs1057517254(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

21

Position

44292390

Gene

AIRE

is a	snp
is	mentioned by
dbSNP	rs1057517254
dbSNP (classic)	rs1057517254
ClinGen	rs1057517254
ebi	rs1057517254
HLI	rs1057517254
Exac	rs1057517254
Gnomad	rs1057517254
Varsome	rs1057517254
LitVar	rs1057517254
Map	rs1057517254
PheGenI	rs1057517254
Biobank	rs1057517254
1000 genomes	rs1057517254
hgdp	rs1057517254
ensembl	rs1057517254
geneview	rs1057517254
scholar	rs1057517254
google	rs1057517254
pharmgkb	rs1057517254
gwascentral	rs1057517254
openSNP	rs1057517254
23andMe	rs1057517254
SNPshot	rs1057517254
SNPdbe	rs1057517254
MSV3d	rs1057517254
GWAS Ctlg	rs1057517254

Max Magnitude

0

ClinVar
Risk	rs1057517254(-;-)
Alt	rs1057517254(-;-)
Reference	Rs1057517254(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.45712273delG
CLNSRC
CLNACC	RCV000410507.1,