rs33970699
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| (CT;CT) | 0 | common in clinvar |
| Make rs33970699(C;G) |
| Make rs33970699(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225618 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33970699 |
| dbSNP (classic) | rs33970699 |
| ClinGen | rs33970699 |
| ebi | rs33970699 |
| HLI | rs33970699 |
| Exac | rs33970699 |
| Gnomad | rs33970699 |
| Varsome | rs33970699 |
| LitVar | rs33970699 |
| Map | rs33970699 |
| PheGenI | rs33970699 |
| Biobank | rs33970699 |
| 1000 genomes | rs33970699 |
| hgdp | rs33970699 |
| ensembl | rs33970699 |
| geneview | rs33970699 |
| scholar | rs33970699 |
| rs33970699 | |
| pharmgkb | rs33970699 |
| gwascentral | rs33970699 |
| openSNP | rs33970699 |
| 23andMe | rs33970699 |
| SNPshot | rs33970699 |
| SNPdbe | rs33970699 |
| MSV3d | rs33970699 |
| GWAS Ctlg | rs33970699 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33970699(G;G) |
| Alt | rs33970699(G;G) |
| Reference | Rs33970699(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN KOCHI |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN KOCHI |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246848G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016884.2, |
[PMID 15768550] Hb KOCHI [beta141(H19)Leu-->Val (g.1404 C-->G); 144-->146(HC1-3)Lys-Tyr-His-->0 (g.1413 A-->T)]: a new variant with increased oxygen affinity.
