rs786204478
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs786204478(C;C) |
Make rs786204478(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 21 |
Position | 44287135 |
Gene | AIRE |
is a | snp |
is | mentioned by |
dbSNP | rs786204478 |
dbSNP (classic) | rs786204478 |
ClinGen | rs786204478 |
ebi | rs786204478 |
HLI | rs786204478 |
Exac | rs786204478 |
Gnomad | rs786204478 |
Varsome | rs786204478 |
LitVar | rs786204478 |
Map | rs786204478 |
PheGenI | rs786204478 |
Biobank | rs786204478 |
1000 genomes | rs786204478 |
hgdp | rs786204478 |
ensembl | rs786204478 |
geneview | rs786204478 |
scholar | rs786204478 |
rs786204478 | |
pharmgkb | rs786204478 |
gwascentral | rs786204478 |
openSNP | rs786204478 |
23andMe | rs786204478 |
SNPshot | rs786204478 |
SNPdbe | rs786204478 |
MSV3d | rs786204478 |
GWAS Ctlg | rs786204478 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204478(C;C) |
Alt | rs786204478(C;C) |
Reference | Rs786204478(T;T) |
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.45707018T>C |
CLNSRC | |
CLNACC | RCV000169131.1, RCV000413548.1, |