rs386833672

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;A)	3	Carrier of a polyglandular autoimmune syndrome type 1 mutation

Make rs386833672(A;A)

Reference

GRCh38 38.1/141

Chromosome

21

Position

44293060

Gene

AIRE

is a	snp
is	mentioned by
dbSNP	rs386833672
dbSNP (classic)	rs386833672
ClinGen	rs386833672
ebi	rs386833672
HLI	rs386833672
Exac	rs386833672
Gnomad	rs386833672
Varsome	rs386833672
LitVar	rs386833672
Map	rs386833672
PheGenI	rs386833672
Biobank	rs386833672
1000 genomes	rs386833672
hgdp	rs386833672
ensembl	rs386833672
geneview	rs386833672
scholar	rs386833672
google	rs386833672
pharmgkb	rs386833672
gwascentral	rs386833672
openSNP	rs386833672
23andMe	rs386833672
SNPshot	rs386833672
SNPdbe	rs386833672
MSV3d	rs386833672
GWAS Ctlg	rs386833672

Max Magnitude

3

aka c.1163_1164insA (p.Met388Ilefs)

ClinVar
Risk	rs386833672(A;A)
Alt	rs386833672(A;A)
Reference	Rs386833672(-;-)
Significance	Other
Disease	Polyglandular autoimmune syndrome
Variation	info
Gene	AIRE
CLNDBN	Polyglandular autoimmune syndrome, type 1
Reversed	0
HGVS	NC_000021.8:g.45712943_45712944insA
CLNSRC	ClinVar
CLNACC	RCV000049632.1,

[PMID 9398840] An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains.