rs193922418

Orientation

plus

Stabilized

plus

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

Make rs193922418(A;A)

Make rs193922418(A;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

44287133

Gene

AIRE

is a	snp
is	mentioned by
dbSNP	rs193922418
dbSNP (classic)	rs193922418
ClinGen	rs193922418
ebi	rs193922418
HLI	rs193922418
Exac	rs193922418
Gnomad	rs193922418
Varsome	rs193922418
LitVar	rs193922418
Map	rs193922418
PheGenI	rs193922418
Biobank	rs193922418
1000 genomes	rs193922418
hgdp	rs193922418
ensembl	rs193922418
geneview	rs193922418
scholar	rs193922418
google	rs193922418
pharmgkb	rs193922418
gwascentral	rs193922418
openSNP	rs193922418
23andMe	rs193922418
SNPshot	rs193922418
SNPdbe	rs193922418
MSV3d	rs193922418
GWAS Ctlg	rs193922418

Max Magnitude

0

ClinVar
Risk	rs193922418(A;A)
Alt	rs193922418(A;A)
Reference	Rs193922418(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.45707016G>A
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029313.1,