rs142788946

Orientation

plus

Stabilized

plus

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

Make rs142788946(G;T)

Make rs142788946(T;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

44287012

Gene

AIRE

is a	snp
is	mentioned by
dbSNP	rs142788946
dbSNP (classic)	rs142788946
ClinGen	rs142788946
ebi	rs142788946
HLI	rs142788946
Exac	rs142788946
Gnomad	rs142788946
Varsome	rs142788946
LitVar	rs142788946
Map	rs142788946
PheGenI	rs142788946
Biobank	rs142788946
1000 genomes	rs142788946
hgdp	rs142788946
ensembl	rs142788946
geneview	rs142788946
scholar	rs142788946
google	rs142788946
pharmgkb	rs142788946
gwascentral	rs142788946
openSNP	rs142788946
23andMe	rs142788946
SNPshot	rs142788946
SNPdbe	rs142788946
MSV3d	rs142788946
GWAS Ctlg	rs142788946

Max Magnitude

0

ClinVar
Risk	rs142788946(T;T)
Alt	rs142788946(T;T)
Reference	Rs142788946(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.45706895G>T
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029311.1,