rs1057517241

Orientation

plus

Stabilized

plus

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

Make rs1057517241(C;T)

Make rs1057517241(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

21

Position

44287570

Gene

AIRE

is a	snp
is	mentioned by
dbSNP	rs1057517241
dbSNP (classic)	rs1057517241
ClinGen	rs1057517241
ebi	rs1057517241
HLI	rs1057517241
Exac	rs1057517241
Gnomad	rs1057517241
Varsome	rs1057517241
LitVar	rs1057517241
Map	rs1057517241
PheGenI	rs1057517241
Biobank	rs1057517241
1000 genomes	rs1057517241
hgdp	rs1057517241
ensembl	rs1057517241
geneview	rs1057517241
scholar	rs1057517241
google	rs1057517241
pharmgkb	rs1057517241
gwascentral	rs1057517241
openSNP	rs1057517241
23andMe	rs1057517241
SNPshot	rs1057517241
SNPdbe	rs1057517241
MSV3d	rs1057517241
GWAS Ctlg	rs1057517241

Max Magnitude

0

ClinVar
Risk	rs1057517241(T;T)
Alt	rs1057517241(T;T)
Reference	Rs1057517241(C;C)
Significance	Probable-Pathogenic
Disease	Polyglandular autoimmune syndrome
Variation	info
Gene	AIRE
CLNDBN	Polyglandular autoimmune syndrome, type 1
Reversed	0
HGVS	NC_000021.8:g.45707453C>T
CLNSRC
CLNACC	RCV000411349.1,