rs386833673
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs386833673(A;T) |
Make rs386833673(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 44297727 |
Gene | AIRE |
is a | snp |
is | mentioned by |
dbSNP | rs386833673 |
dbSNP (classic) | rs386833673 |
ClinGen | rs386833673 |
ebi | rs386833673 |
HLI | rs386833673 |
Exac | rs386833673 |
Gnomad | rs386833673 |
Varsome | rs386833673 |
LitVar | rs386833673 |
Map | rs386833673 |
PheGenI | rs386833673 |
Biobank | rs386833673 |
1000 genomes | rs386833673 |
hgdp | rs386833673 |
ensembl | rs386833673 |
geneview | rs386833673 |
scholar | rs386833673 |
rs386833673 | |
pharmgkb | rs386833673 |
gwascentral | rs386833673 |
openSNP | rs386833673 |
23andMe | rs386833673 |
SNPshot | rs386833673 |
SNPdbe | rs386833673 |
MSV3d | rs386833673 |
GWAS Ctlg | rs386833673 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833673(T;T) |
Alt | rs386833673(T;T) |
Reference | Rs386833673(A;A) |
Significance | Probable-Pathogenic |
Disease | Polyglandular autoimmune syndrome |
Variation | info |
Gene | AIRE |
CLNDBN | Polyglandular autoimmune syndrome, type 1 |
Reversed | 0 |
HGVS | NC_000021.8:g.45717610A>T |
CLNSRC | ClinVar |
CLNACC | RCV000049633.2, |
[PMID 9717837] Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.
[PMID 10677297] Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.