rs63750928
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (GAG;GAG) | 0 | common in complete genomics |
| Make rs63750928(-;-) |
| Make rs63750928(-;GAG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226998 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750928 |
| dbSNP (classic) | rs63750928 |
| ClinGen | rs63750928 |
| ebi | rs63750928 |
| HLI | rs63750928 |
| Exac | rs63750928 |
| Gnomad | rs63750928 |
| Varsome | rs63750928 |
| LitVar | rs63750928 |
| Map | rs63750928 |
| PheGenI | rs63750928 |
| Biobank | rs63750928 |
| 1000 genomes | rs63750928 |
| hgdp | rs63750928 |
| ensembl | rs63750928 |
| geneview | rs63750928 |
| scholar | rs63750928 |
| rs63750928 | |
| pharmgkb | rs63750928 |
| gwascentral | rs63750928 |
| openSNP | rs63750928 |
| 23andMe | rs63750928 |
| SNPshot | rs63750928 |
| SNPdbe | rs63750928 |
| MSV3d | rs63750928 |
| GWAS Ctlg | rs63750928 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs63750928(-;-) |
| Alt | rs63750928(-;-) |
| Reference | Rs63750928(GAG;GAG) |
| Significance | Other |
| Disease | HEMOGLOBIN LEIDEN |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN LEIDEN |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248228_5248230delCTC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016452.4, |
[PMID 5698750] Haemoglobin Leiden: deletion of beta-6 or 7 glutamic acid.
[PMID 602924] Hb Leiden-beta (0) thalassemia in a Chinese with severe hemolytic anemia.
[PMID 1252618] Translation of human globin mRNA: globin synthesis in cells containing Hb Leiden.
[PMID 4430724
] Imbalance in alpha and beta globin synthesis associated with a hemoglobinopathy.
[PMID 4748816] Some functional properties of hemoglobin Leiden.
[PMID 6874375] Hemoglobin Leiden [beta 6 or 7 (A3 or A4) Glu leads to O] in a Yugoslavian woman arisen by a new mutation.
