rs267608261
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267608261(G;T) |
Make rs267608261(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 6 |
Position | 83170340 |
Gene | DOPEY1, PGM3 |
is a | snp |
is | mentioned by |
dbSNP | rs267608261 |
dbSNP (classic) | rs267608261 |
ClinGen | rs267608261 |
ebi | rs267608261 |
HLI | rs267608261 |
Exac | rs267608261 |
Gnomad | rs267608261 |
Varsome | rs267608261 |
LitVar | rs267608261 |
Map | rs267608261 |
PheGenI | rs267608261 |
Biobank | rs267608261 |
1000 genomes | rs267608261 |
hgdp | rs267608261 |
ensembl | rs267608261 |
geneview | rs267608261 |
scholar | rs267608261 |
rs267608261 | |
pharmgkb | rs267608261 |
gwascentral | rs267608261 |
openSNP | rs267608261 |
23andMe | rs267608261 |
SNPshot | rs267608261 |
SNPdbe | rs267608261 |
MSV3d | rs267608261 |
GWAS Ctlg | rs267608261 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267608261(T;T) |
Alt | rs267608261(T;T) |
Reference | Rs267608261(G;G) |
Significance | Pathogenic |
Disease | Immunodeficiency 23 Hyper-IgE syndrome |
Variation | info |
Gene | DOPEY1 PGM3 |
CLNDBN | Immunodeficiency 23 Hyper-IgE syndrome |
Reversed | 1 |
HGVS | NC_000006.11:g.83880059C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000119833.4, RCV000144536.1, |