rs386833675

plus

Geno	Mag	Summary
(CTGTCCCCTCCGC;CTGTCCCCTCCGC)	0	common in clinvar
(GCCTGTCCCCTCC;GCCTGTCCCCTCC)	0	common in clinvar

Make rs386833675(-;-)

Make rs386833675(-;CTGTCCCCTCCGC)

Reference

GRCh38 38.1/141

Chromosome

21

Position

44291182

Gene

AIRE

is a	snp
is	mentioned by
dbSNP	rs386833675
dbSNP (classic)	rs386833675
ClinGen	rs386833675
ebi	rs386833675
HLI	rs386833675
Exac	rs386833675
Gnomad	rs386833675
Varsome	rs386833675
LitVar	rs386833675
Map	rs386833675
PheGenI	rs386833675
Biobank	rs386833675
1000 genomes	rs386833675
hgdp	rs386833675
ensembl	rs386833675
geneview	rs386833675
scholar	rs386833675
google	rs386833675
pharmgkb	rs386833675
gwascentral	rs386833675
openSNP	rs386833675
23andMe	rs386833675
SNPshot	rs386833675
SNPdbe	rs386833675
MSV3d	rs386833675
GWAS Ctlg	rs386833675

Max Magnitude

0

ClinVar
Risk	rs386833675(-;-) Rs386833675(GCCTGTCCCCTCC;GCCTGTCCCCTCC)
Alt	rs386833675(-;-) Rs386833675(GCCTGTCCCCTCC;GCCTGTCCCCTCC)
Reference	Rs386833675(CTGTCCCCTCCGC;CTGTCCCCTCCGC)
Significance	Other
Disease	Autoimmune polyglandular syndrome type 1 Polyglandular autoimmune syndrome not provided
Variation	info
Gene	AIRE
CLNDBN	Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia Polyglandular autoimmune syndrome, type 1 not provided
Reversed	0
HGVS	NC_000021.8:g.45711065_45711077delCTGTCCCCTCCGC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003473.2, RCV000049635.3, RCV000284330.2,

[PMID 10677297 ] Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.