rs63750968
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (GG;GG) | 0 | common in clinvar |
| Make rs63750968(-;-) |
| Make rs63750968(-;GGCCTG) |
| Make rs63750968(GGCCTG;GGCCTG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226664 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750968 |
| dbSNP (classic) | rs63750968 |
| ClinGen | rs63750968 |
| ebi | rs63750968 |
| HLI | rs63750968 |
| Exac | rs63750968 |
| Gnomad | rs63750968 |
| Varsome | rs63750968 |
| LitVar | rs63750968 |
| Map | rs63750968 |
| PheGenI | rs63750968 |
| Biobank | rs63750968 |
| 1000 genomes | rs63750968 |
| hgdp | rs63750968 |
| ensembl | rs63750968 |
| geneview | rs63750968 |
| scholar | rs63750968 |
| rs63750968 | |
| pharmgkb | rs63750968 |
| gwascentral | rs63750968 |
| openSNP | rs63750968 |
| 23andMe | rs63750968 |
| SNPshot | rs63750968 |
| SNPdbe | rs63750968 |
| MSV3d | rs63750968 |
| GWAS Ctlg | rs63750968 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs63750968(-;-) |
| Alt | rs63750968(-;-) |
| Reference | rs63750968(GCCTGG;GCCTGG) |
| Significance | Other |
| Disease | HEMOGLOBIN ST. ANTOINE |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN ST. ANTOINE |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247894_5247899delCAGGCC |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016610.2, |
[PMID 4699574] Two new hemoglobin variants with deletion. Hemoglobin tours: Thr 8 7 (F 3 ) deleted and hemoglobin St Antoine: Gly-Leu 74-75 (E 18-19 deleted. Consequences for oxygen affinity and protein stability.
