rs74315444
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs74315444(A;A) |
Make rs74315444(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 33426974 |
Gene | IFNGR2 |
is a | snp |
is | mentioned by |
dbSNP | rs74315444 |
dbSNP (classic) | rs74315444 |
ClinGen | rs74315444 |
ebi | rs74315444 |
HLI | rs74315444 |
Exac | rs74315444 |
Gnomad | rs74315444 |
Varsome | rs74315444 |
LitVar | rs74315444 |
Map | rs74315444 |
PheGenI | rs74315444 |
Biobank | rs74315444 |
1000 genomes | rs74315444 |
hgdp | rs74315444 |
ensembl | rs74315444 |
geneview | rs74315444 |
scholar | rs74315444 |
rs74315444 | |
pharmgkb | rs74315444 |
gwascentral | rs74315444 |
openSNP | rs74315444 |
23andMe | rs74315444 |
SNPshot | rs74315444 |
SNPdbe | rs74315444 |
MSV3d | rs74315444 |
GWAS Ctlg | rs74315444 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74315444(A;A) |
Alt | rs74315444(A;A) |
Reference | Rs74315444(C;C) |
Significance | Pathogenic |
Disease | Immunodeficiency 28 |
Variation | info |
Gene | IFNGR2 |
CLNDBN | Immunodeficiency 28 |
Reversed | 0 |
HGVS | NC_000021.8:g.34799281C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015848.27, |