rs63750021
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 |
| Make rs63750021(A;A) |
| Make rs63750021(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5253357 |
| Gene | HBG2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750021 |
| dbSNP (classic) | rs63750021 |
| ClinGen | rs63750021 |
| ebi | rs63750021 |
| HLI | rs63750021 |
| Exac | rs63750021 |
| Gnomad | rs63750021 |
| Varsome | rs63750021 |
| LitVar | rs63750021 |
| Map | rs63750021 |
| PheGenI | rs63750021 |
| Biobank | rs63750021 |
| 1000 genomes | rs63750021 |
| hgdp | rs63750021 |
| ensembl | rs63750021 |
| geneview | rs63750021 |
| scholar | rs63750021 |
| rs63750021 | |
| pharmgkb | rs63750021 |
| gwascentral | rs63750021 |
| openSNP | rs63750021 |
| 23andMe | rs63750021 |
| SNPshot | rs63750021 |
| SNPdbe | rs63750021 |
| MSV3d | rs63750021 |
| GWAS Ctlg | rs63750021 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs63750021(A;A) |
| Alt | rs63750021(A;A) |
| Reference | Rs63750021(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN F (CARLTON) |
| Variation | info |
| Gene | HBG2 |
| CLNDBN | HEMOGLOBIN F (CARLTON) |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5274587C>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016100.1, |
[PMID 836882] Haemoglobin F Melbourne Ggamma 16 Gly leads to Arg and haemoglobin F carlton Ggamma 121 Glu leads to Lys. Further evidence for varied activity of gamma-chain genes.
