rs869312885
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs869312885(A;A) |
Make rs869312885(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 7 |
Position | 50382669 |
Gene | IKZF1 |
is a | snp |
is | mentioned by |
dbSNP | rs869312885 |
dbSNP (classic) | rs869312885 |
ClinGen | rs869312885 |
ebi | rs869312885 |
HLI | rs869312885 |
Exac | rs869312885 |
Gnomad | rs869312885 |
Varsome | rs869312885 |
LitVar | rs869312885 |
Map | rs869312885 |
PheGenI | rs869312885 |
Biobank | rs869312885 |
1000 genomes | rs869312885 |
hgdp | rs869312885 |
ensembl | rs869312885 |
geneview | rs869312885 |
scholar | rs869312885 |
rs869312885 | |
pharmgkb | rs869312885 |
gwascentral | rs869312885 |
openSNP | rs869312885 |
23andMe | rs869312885 |
SNPshot | rs869312885 |
SNPdbe | rs869312885 |
MSV3d | rs869312885 |
GWAS Ctlg | rs869312885 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312885(A;A) |
Alt | rs869312885(A;A) |
Reference | Rs869312885(G;G) |
Significance | Pathogenic |
Disease | Immunodeficiency |
Variation | info |
Gene | IKZF1 |
CLNDBN | Immunodeficiency, common variable, 13 |
Reversed | 0 |
HGVS | NC_000007.13:g.50450367G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210350.2, |