rs2070947
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs2070947(C;C) |
| Make rs2070947(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 44920928 |
| Gene | ITGB2, ITGB2-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2070947 |
| dbSNP (classic) | rs2070947 |
| ClinGen | rs2070947 |
| ebi | rs2070947 |
| HLI | rs2070947 |
| Exac | rs2070947 |
| Gnomad | rs2070947 |
| Varsome | rs2070947 |
| LitVar | rs2070947 |
| Map | rs2070947 |
| PheGenI | rs2070947 |
| Biobank | rs2070947 |
| 1000 genomes | rs2070947 |
| hgdp | rs2070947 |
| ensembl | rs2070947 |
| geneview | rs2070947 |
| scholar | rs2070947 |
| rs2070947 | |
| pharmgkb | rs2070947 |
| gwascentral | rs2070947 |
| openSNP | rs2070947 |
| 23andMe | rs2070947 |
| SNPshot | rs2070947 |
| SNPdbe | rs2070947 |
| MSV3d | rs2070947 |
| GWAS Ctlg | rs2070947 |
| GMAF | 0.2002 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 23388428] Association study of integrins beta 1 and beta 2 gene polymorphism and papillary thyroid cancer
| ClinVar | |
|---|---|
| Risk | rs2070947(C;C) |
| Alt | rs2070947(C;C) |
| Reference | Rs2070947(T;T) |
| Significance | Non-pathogenic |
| Disease | Leukocyte adhesion deficiency |
| Variation | info |
| Gene | ITGB2 ITGB2-AS1 |
| CLNDBN | Leukocyte adhesion deficiency |
| Reversed | 1 |
| HGVS | NC_000021.8:g.46340843A>G |
| CLNSRC | |
| CLNACC | RCV000285974.1, |
