rs786204567
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs786204567(-;C) |
Make rs786204567(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 21 |
Position | 44293146 |
Gene | AIRE |
is a | snp |
is | mentioned by |
dbSNP | rs786204567 |
dbSNP (classic) | rs786204567 |
ClinGen | rs786204567 |
ebi | rs786204567 |
HLI | rs786204567 |
Exac | rs786204567 |
Gnomad | rs786204567 |
Varsome | rs786204567 |
LitVar | rs786204567 |
Map | rs786204567 |
PheGenI | rs786204567 |
Biobank | rs786204567 |
1000 genomes | rs786204567 |
hgdp | rs786204567 |
ensembl | rs786204567 |
geneview | rs786204567 |
scholar | rs786204567 |
rs786204567 | |
pharmgkb | rs786204567 |
gwascentral | rs786204567 |
openSNP | rs786204567 |
23andMe | rs786204567 |
SNPshot | rs786204567 |
SNPdbe | rs786204567 |
MSV3d | rs786204567 |
GWAS Ctlg | rs786204567 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204567(C;C) |
Alt | rs786204567(C;C) |
Reference | Rs786204567(-;-) |
Significance | Pathogenic |
Disease | Polyglandular autoimmune syndrome not provided |
Variation | info |
Gene | AIRE |
CLNDBN | Polyglandular autoimmune syndrome, type 1 not provided |
Reversed | 0 |
HGVS | NC_000021.8:g.45713029dupC |
CLNSRC | |
CLNACC | RCV000169307.1, RCV000320611.2, |