rs1057517072

Orientation

plus

Stabilized

plus

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

Make rs1057517072(-;-)

Make rs1057517072(-;CGCC)

Make rs1057517072(CGCC;CGCC)

Reference

GRCh38.p7 38.3/150

Chromosome

21

Position

44294480

Gene

AIRE

is a	snp
is	mentioned by
dbSNP	rs1057517072
dbSNP (classic)	rs1057517072
ClinGen	rs1057517072
ebi	rs1057517072
HLI	rs1057517072
Exac	rs1057517072
Gnomad	rs1057517072
Varsome	rs1057517072
LitVar	rs1057517072
Map	rs1057517072
PheGenI	rs1057517072
Biobank	rs1057517072
1000 genomes	rs1057517072
hgdp	rs1057517072
ensembl	rs1057517072
geneview	rs1057517072
scholar	rs1057517072
google	rs1057517072
pharmgkb	rs1057517072
gwascentral	rs1057517072
openSNP	rs1057517072
23andMe	rs1057517072
SNPshot	rs1057517072
SNPdbe	rs1057517072
MSV3d	rs1057517072
GWAS Ctlg	rs1057517072

Max Magnitude

0

ClinVar
Risk	rs1057517072(-;-)
Alt	rs1057517072(-;-)
Reference	Rs1057517072(CCCG;CCCG)
Significance	Probable-Pathogenic
Disease	Polyglandular autoimmune syndrome
Variation	info
Gene	AIRE
CLNDBN	Polyglandular autoimmune syndrome, type 1
Reversed	0
HGVS	NC_000021.8:g.45714363_45714366delCGCC
CLNSRC
CLNACC	RCV000409587.1,