rs76572092
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (TACTGTGGTG;TACTGTGGTG) | 0 | common in clinvar |
| Make rs76572092(-;-) |
| Make rs76572092(-;TACTGTGGTG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 44375082 |
| Gene | ITGA2B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs76572092 |
| dbSNP (classic) | rs76572092 |
| ClinGen | rs76572092 |
| ebi | rs76572092 |
| HLI | rs76572092 |
| Exac | rs76572092 |
| Gnomad | rs76572092 |
| Varsome | rs76572092 |
| LitVar | rs76572092 |
| Map | rs76572092 |
| PheGenI | rs76572092 |
| Biobank | rs76572092 |
| 1000 genomes | rs76572092 |
| hgdp | rs76572092 |
| ensembl | rs76572092 |
| geneview | rs76572092 |
| scholar | rs76572092 |
| rs76572092 | |
| pharmgkb | rs76572092 |
| gwascentral | rs76572092 |
| openSNP | rs76572092 |
| 23andMe | rs76572092 |
| SNPshot | rs76572092 |
| SNPdbe | rs76572092 |
| MSV3d | rs76572092 |
| GWAS Ctlg | rs76572092 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs76572092(TACTGTGGTG;TACTGTGGTG) |
| Significance | Pathogenic |
| Disease | Glanzmann's thrombasthenia |
| Variation | info |
| Gene | ITGA2B |
| CLNDBN | Glanzmann's thrombasthenia |
| Reversed | 1 |
| HGVS | NC_000017.10:g.42452450_42452459delCACCACAGTA |
| CLNSRC | |
| CLNACC | |
