rs387906294
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs387906294(-;-) |
Make rs387906294(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 44296392 |
Gene | AIRE |
is a | snp |
is | mentioned by |
dbSNP | rs387906294 |
dbSNP (classic) | rs387906294 |
ClinGen | rs387906294 |
ebi | rs387906294 |
HLI | rs387906294 |
Exac | rs387906294 |
Gnomad | rs387906294 |
Varsome | rs387906294 |
LitVar | rs387906294 |
Map | rs387906294 |
PheGenI | rs387906294 |
Biobank | rs387906294 |
1000 genomes | rs387906294 |
hgdp | rs387906294 |
ensembl | rs387906294 |
geneview | rs387906294 |
scholar | rs387906294 |
rs387906294 | |
pharmgkb | rs387906294 |
gwascentral | rs387906294 |
openSNP | rs387906294 |
23andMe | rs387906294 |
SNPshot | rs387906294 |
SNPdbe | rs387906294 |
MSV3d | rs387906294 |
GWAS Ctlg | rs387906294 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906294(-;-) |
Alt | rs387906294(-;-) |
Reference | Rs387906294(G;G) |
Significance | Pathogenic |
Disease | Polyglandular autoimmune syndrome |
Variation | info |
Gene | AIRE |
CLNDBN | Polyglandular autoimmune syndrome, type 1 |
Reversed | 0 |
HGVS | NC_000021.8:g.45716275delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003476.5, |