rs375323253
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs375323253(A;A) |
Make rs375323253(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 613094 |
Gene | IRF7 |
is a | snp |
is | mentioned by |
dbSNP | rs375323253 |
dbSNP (classic) | rs375323253 |
ClinGen | rs375323253 |
ebi | rs375323253 |
HLI | rs375323253 |
Exac | rs375323253 |
Gnomad | rs375323253 |
Varsome | rs375323253 |
LitVar | rs375323253 |
Map | rs375323253 |
PheGenI | rs375323253 |
Biobank | rs375323253 |
1000 genomes | rs375323253 |
hgdp | rs375323253 |
ensembl | rs375323253 |
geneview | rs375323253 |
scholar | rs375323253 |
rs375323253 | |
pharmgkb | rs375323253 |
gwascentral | rs375323253 |
openSNP | rs375323253 |
23andMe | rs375323253 |
SNPshot | rs375323253 |
SNPdbe | rs375323253 |
MSV3d | rs375323253 |
GWAS Ctlg | rs375323253 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs375323253(A;A) |
Alt | rs375323253(A;A) |
Reference | Rs375323253(G;G) |
Significance | Pathogenic |
Disease | Immunodeficiency 39 |
Variation | info |
Gene | IRF7 |
CLNDBN | Immunodeficiency 39 |
Reversed | 0 |
HGVS | NC_000011.9:g.613094G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000170461.3, |