rs267606642
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs267606642(G;G) |
Make rs267606642(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 44286663 |
Gene | AIRE |
is a | snp |
is | mentioned by |
dbSNP | rs267606642 |
dbSNP (classic) | rs267606642 |
ClinGen | rs267606642 |
ebi | rs267606642 |
HLI | rs267606642 |
Exac | rs267606642 |
Gnomad | rs267606642 |
Varsome | rs267606642 |
LitVar | rs267606642 |
Map | rs267606642 |
PheGenI | rs267606642 |
Biobank | rs267606642 |
1000 genomes | rs267606642 |
hgdp | rs267606642 |
ensembl | rs267606642 |
geneview | rs267606642 |
scholar | rs267606642 |
rs267606642 | |
pharmgkb | rs267606642 |
gwascentral | rs267606642 |
openSNP | rs267606642 |
23andMe | rs267606642 |
SNPshot | rs267606642 |
SNPdbe | rs267606642 |
MSV3d | rs267606642 |
GWAS Ctlg | rs267606642 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606642(G;G) |
Alt | rs267606642(G;G) |
Reference | Rs267606642(T;T) |
Significance | Pathogenic |
Disease | Polyglandular autoimmune syndrome |
Variation | info |
Gene | AIRE |
CLNDBN | Polyglandular autoimmune syndrome, type 1 |
Reversed | 0 |
HGVS | NC_000021.8:g.45706546T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003481.3, |