rs137852615
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs137852615(A;A) |
| Make rs137852615(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 44903482 |
| Gene | ITGB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137852615 |
| dbSNP (classic) | rs137852615 |
| ClinGen | rs137852615 |
| ebi | rs137852615 |
| HLI | rs137852615 |
| Exac | rs137852615 |
| Gnomad | rs137852615 |
| Varsome | rs137852615 |
| LitVar | rs137852615 |
| Map | rs137852615 |
| PheGenI | rs137852615 |
| Biobank | rs137852615 |
| 1000 genomes | rs137852615 |
| hgdp | rs137852615 |
| ensembl | rs137852615 |
| geneview | rs137852615 |
| scholar | rs137852615 |
| rs137852615 | |
| pharmgkb | rs137852615 |
| gwascentral | rs137852615 |
| openSNP | rs137852615 |
| 23andMe | rs137852615 |
| SNPshot | rs137852615 |
| SNPdbe | rs137852615 |
| MSV3d | rs137852615 |
| GWAS Ctlg | rs137852615 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137852615(A;A) rs137852615(T;T) |
| Alt | rs137852615(A;A) rs137852615(T;T) |
| Reference | Rs137852615(G;G) |
| Significance | Pathogenic |
| Disease | not provided Leukocyte adhesion deficiency type 1 Leukocyte adhesion deficiency |
| Variation | info |
| Gene | ITGB2 |
| CLNDBN | not provided Leukocyte adhesion deficiency type 1 Leukocyte adhesion deficiency |
| Reversed | 1 |
| HGVS | NC_000021.8:g.46323397C>A; NC_000021.8:g.46323397C>T |
| CLNSRC | UniProtKB (variants) OMIM Allelic Variant |
| CLNACC | RCV000059049.1, RCV000087118.1, RCV000010075.2, |
[PMID 20549317] Characterization of 11 new cases of leukocyte adhesion deficiency type 1 with seven novel mutations in the ITGB2 gene.
