rs179363889
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs179363889(C;T) |
Make rs179363889(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 21 |
Position | 44297705 |
Gene | AIRE |
is a | snp |
is | mentioned by |
dbSNP | rs179363889 |
dbSNP (classic) | rs179363889 |
ClinGen | rs179363889 |
ebi | rs179363889 |
HLI | rs179363889 |
Exac | rs179363889 |
Gnomad | rs179363889 |
Varsome | rs179363889 |
LitVar | rs179363889 |
Map | rs179363889 |
PheGenI | rs179363889 |
Biobank | rs179363889 |
1000 genomes | rs179363889 |
hgdp | rs179363889 |
ensembl | rs179363889 |
geneview | rs179363889 |
scholar | rs179363889 |
rs179363889 | |
pharmgkb | rs179363889 |
gwascentral | rs179363889 |
openSNP | rs179363889 |
23andMe | rs179363889 |
SNPshot | rs179363889 |
SNPdbe | rs179363889 |
MSV3d | rs179363889 |
GWAS Ctlg | rs179363889 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs179363889(T;T) |
Alt | rs179363889(T;T) |
Reference | Rs179363889(C;C) |
Significance | Pathogenic |
Disease | not provided Polyglandular autoimmune syndrome |
Variation | info |
Gene | AIRE |
CLNDBN | not provided Polyglandular autoimmune syndrome, type 1 |
Reversed | 0 |
HGVS | NC_000021.8:g.45717588C>T |
CLNSRC | UniProtKB (protein) UniProtKB (variants) |
CLNACC | RCV000059052.2, RCV000409203.1, |