rs1057517428

Orientation

plus

Stabilized

plus

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

Make rs1057517428(-;-)

Make rs1057517428(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

21

Position

44286684

Gene

AIRE

is a	snp
is	mentioned by
dbSNP	rs1057517428
dbSNP (classic)	rs1057517428
ClinGen	rs1057517428
ebi	rs1057517428
HLI	rs1057517428
Exac	rs1057517428
Gnomad	rs1057517428
Varsome	rs1057517428
LitVar	rs1057517428
Map	rs1057517428
PheGenI	rs1057517428
Biobank	rs1057517428
1000 genomes	rs1057517428
hgdp	rs1057517428
ensembl	rs1057517428
geneview	rs1057517428
scholar	rs1057517428
google	rs1057517428
pharmgkb	rs1057517428
gwascentral	rs1057517428
openSNP	rs1057517428
23andMe	rs1057517428
SNPshot	rs1057517428
SNPdbe	rs1057517428
MSV3d	rs1057517428
GWAS Ctlg	rs1057517428

Max Magnitude

0

ClinVar
Risk	rs1057517428(-;-)
Alt	rs1057517428(-;-)
Reference	Rs1057517428(T;T)
Significance	Probable-Pathogenic
Disease	Polyglandular autoimmune syndrome
Variation	info
Gene	AIRE
CLNDBN	Polyglandular autoimmune syndrome, type 1
Reversed	0
HGVS	NC_000021.8:g.45706567delT
CLNSRC
CLNACC	RCV000409889.1,