rs112321280
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs112321280(A;G) |
Make rs112321280(G;G) |
Reference | GRCh37 37.1/132 |
Chromosome | 9 |
Position | 336714 |
Gene | DOCK8 |
is a | snp |
is | mentioned by |
dbSNP | rs112321280 |
dbSNP (classic) | rs112321280 |
ClinGen | rs112321280 |
ebi | rs112321280 |
HLI | rs112321280 |
Exac | rs112321280 |
Gnomad | rs112321280 |
Varsome | rs112321280 |
LitVar | rs112321280 |
Map | rs112321280 |
PheGenI | rs112321280 |
Biobank | rs112321280 |
1000 genomes | rs112321280 |
hgdp | rs112321280 |
ensembl | rs112321280 |
geneview | rs112321280 |
scholar | rs112321280 |
rs112321280 | |
pharmgkb | rs112321280 |
gwascentral | rs112321280 |
openSNP | rs112321280 |
23andMe | rs112321280 |
SNPshot | rs112321280 |
SNPdbe | rs112321280 |
MSV3d | rs112321280 |
GWAS Ctlg | rs112321280 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs112321280(G;G) |
Alt | rs112321280(G;G) |
Reference | Rs112321280(A;A) |
Significance | Pathogenic |
Disease | Hyperimmunoglobulin E recurrent infection syndrome |
Variation | info |
Gene | DOCK8 |
CLNDBN | Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive |
Reversed | 0 |
HGVS | NC_000009.11:g.336714A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000999.2, |