rs869320754
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs869320754(-;A) |
Make rs869320754(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 4 |
Position | 102576933 |
Gene | NFKB1 |
is a | snp |
is | mentioned by |
dbSNP | rs869320754 |
dbSNP (classic) | rs869320754 |
ClinGen | rs869320754 |
ebi | rs869320754 |
HLI | rs869320754 |
Exac | rs869320754 |
Gnomad | rs869320754 |
Varsome | rs869320754 |
LitVar | rs869320754 |
Map | rs869320754 |
PheGenI | rs869320754 |
Biobank | rs869320754 |
1000 genomes | rs869320754 |
hgdp | rs869320754 |
ensembl | rs869320754 |
geneview | rs869320754 |
scholar | rs869320754 |
rs869320754 | |
pharmgkb | rs869320754 |
gwascentral | rs869320754 |
openSNP | rs869320754 |
23andMe | rs869320754 |
SNPshot | rs869320754 |
SNPdbe | rs869320754 |
MSV3d | rs869320754 |
GWAS Ctlg | rs869320754 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869320754(A;A) |
Alt | rs869320754(A;A) |
Reference | Rs869320754(-;-) |
Significance | Pathogenic |
Disease | Immunodeficiency |
Variation | info |
Gene | NFKB1 LOC101929401 |
CLNDBN | Immunodeficiency, common variable, 12 |
Reversed | 0 |
HGVS | NC_000004.11:g.103498090dupA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000195130.2, |