rs9983887
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs9983887(A;A) |
| Make rs9983887(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 21 |
| Position | 44903541 |
| Gene | ITGB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs9983887 |
| dbSNP (classic) | rs9983887 |
| ClinGen | rs9983887 |
| ebi | rs9983887 |
| HLI | rs9983887 |
| Exac | rs9983887 |
| Gnomad | rs9983887 |
| Varsome | rs9983887 |
| LitVar | rs9983887 |
| Map | rs9983887 |
| PheGenI | rs9983887 |
| Biobank | rs9983887 |
| 1000 genomes | rs9983887 |
| hgdp | rs9983887 |
| ensembl | rs9983887 |
| geneview | rs9983887 |
| scholar | rs9983887 |
| rs9983887 | |
| pharmgkb | rs9983887 |
| gwascentral | rs9983887 |
| openSNP | rs9983887 |
| 23andMe | rs9983887 |
| SNPshot | rs9983887 |
| SNPdbe | rs9983887 |
| MSV3d | rs9983887 |
| GWAS Ctlg | rs9983887 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs9983887(A;A) rs9983887(C;C) |
| Alt | rs9983887(A;A) rs9983887(C;C) |
| Reference | Rs9983887(G;G) |
| Significance | Pathogenic |
| Disease | Leukocyte adhesion deficiency type 1 Leukocyte adhesion deficiency |
| Variation | info |
| Gene | ITGB2 |
| CLNDBN | Leukocyte adhesion deficiency type 1 Leukocyte adhesion deficiency |
| Reversed | 0 |
| HGVS | NC_000021.8:g.46323456G>A |
| CLNSRC | ClinVar |
| CLNACC | RCV000087116.1, RCV000403195.1, |
