rs1057516916

Orientation

plus

Stabilized

plus

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

Make rs1057516916(-;-)

Make rs1057516916(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

21

Position

44293176

Gene

AIRE

is a	snp
is	mentioned by
dbSNP	rs1057516916
dbSNP (classic)	rs1057516916
ClinGen	rs1057516916
ebi	rs1057516916
HLI	rs1057516916
Exac	rs1057516916
Gnomad	rs1057516916
Varsome	rs1057516916
LitVar	rs1057516916
Map	rs1057516916
PheGenI	rs1057516916
Biobank	rs1057516916
1000 genomes	rs1057516916
hgdp	rs1057516916
ensembl	rs1057516916
geneview	rs1057516916
scholar	rs1057516916
google	rs1057516916
pharmgkb	rs1057516916
gwascentral	rs1057516916
openSNP	rs1057516916
23andMe	rs1057516916
SNPshot	rs1057516916
SNPdbe	rs1057516916
MSV3d	rs1057516916
GWAS Ctlg	rs1057516916

Max Magnitude

0

ClinVar
Risk	rs1057516916(-;-)
Alt	rs1057516916(-;-)
Reference	Rs1057516916(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.45713059delG
CLNSRC
CLNACC	RCV000409227.1,