rs1057516811
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs1057516811(-;T) |
Make rs1057516811(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 21 |
Position | 44296447 |
Gene | AIRE |
is a | snp |
is | mentioned by |
dbSNP | rs1057516811 |
dbSNP (classic) | rs1057516811 |
ClinGen | rs1057516811 |
ebi | rs1057516811 |
HLI | rs1057516811 |
Exac | rs1057516811 |
Gnomad | rs1057516811 |
Varsome | rs1057516811 |
LitVar | rs1057516811 |
Map | rs1057516811 |
PheGenI | rs1057516811 |
Biobank | rs1057516811 |
1000 genomes | rs1057516811 |
hgdp | rs1057516811 |
ensembl | rs1057516811 |
geneview | rs1057516811 |
scholar | rs1057516811 |
rs1057516811 | |
pharmgkb | rs1057516811 |
gwascentral | rs1057516811 |
openSNP | rs1057516811 |
23andMe | rs1057516811 |
SNPshot | rs1057516811 |
SNPdbe | rs1057516811 |
MSV3d | rs1057516811 |
GWAS Ctlg | rs1057516811 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516811(T;T) |
Alt | rs1057516811(T;T) |
Reference | Rs1057516811(-;-) |
Significance | Probable-Pathogenic |
Disease | Polyglandular autoimmune syndrome |
Variation | info |
Gene | AIRE |
CLNDBN | Polyglandular autoimmune syndrome, type 1 |
Reversed | 0 |
HGVS | NC_000021.8:g.45716330dupT |
CLNSRC | |
CLNACC | RCV000409364.1, |