rs63751285
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs63751285(C;C) |
| Make rs63751285(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226973 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63751285 |
| dbSNP (classic) | rs63751285 |
| ClinGen | rs63751285 |
| ebi | rs63751285 |
| HLI | rs63751285 |
| Exac | rs63751285 |
| Gnomad | rs63751285 |
| Varsome | rs63751285 |
| LitVar | rs63751285 |
| Map | rs63751285 |
| PheGenI | rs63751285 |
| Biobank | rs63751285 |
| 1000 genomes | rs63751285 |
| hgdp | rs63751285 |
| ensembl | rs63751285 |
| geneview | rs63751285 |
| scholar | rs63751285 |
| rs63751285 | |
| pharmgkb | rs63751285 |
| gwascentral | rs63751285 |
| openSNP | rs63751285 |
| 23andMe | rs63751285 |
| SNPshot | rs63751285 |
| SNPdbe | rs63751285 |
| MSV3d | rs63751285 |
| GWAS Ctlg | rs63751285 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs63751285(C;C) rs63751285(T;T) |
| Alt | rs63751285(C;C) rs63751285(T;T) |
| Reference | Rs63751285(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN D (BUSHMAN) |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN D (BUSHMAN) |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248203C>G |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016311.2, |
[PMID 6082467] Haemoglobin variant in a Bushman: haemoglobin D-beta-Bushman-alpha-beta-22-16-gly-arg.
