rs33958358
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33958358(G;T) |
| Make rs33958358(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5227018 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33958358 |
| dbSNP (classic) | rs33958358 |
| ClinGen | rs33958358 |
| ebi | rs33958358 |
| HLI | rs33958358 |
| Exac | rs33958358 |
| Gnomad | rs33958358 |
| Varsome | rs33958358 |
| LitVar | rs33958358 |
| Map | rs33958358 |
| PheGenI | rs33958358 |
| Biobank | rs33958358 |
| 1000 genomes | rs33958358 |
| hgdp | rs33958358 |
| ensembl | rs33958358 |
| geneview | rs33958358 |
| scholar | rs33958358 |
| rs33958358 | |
| pharmgkb | rs33958358 |
| gwascentral | rs33958358 |
| openSNP | rs33958358 |
| 23andMe | rs33958358 |
| SNPshot | rs33958358 |
| SNPdbe | rs33958358 |
| MSV3d | rs33958358 |
| GWAS Ctlg | rs33958358 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33958358(A;A) rs33958358(T;T) |
| Alt | rs33958358(A;A) rs33958358(T;T) |
| Reference | Rs33958358(G;G) |
| Significance | Other |
| Disease | Hb niigata HEMOGLOBIN SOUTH FLORIDA |
| Variation | info |
| Gene | HBB |
| CLNDBN | Hb niigata HEMOGLOBIN SOUTH FLORIDA |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248248C>A; NC_000011.9:g.5248248C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016824.24, RCV000016609.3, |
[PMID 9101286] Hb Niigata [beta 1 (NA1) Val-->Leu]: the fifth variant with retention of the initiator methionine and partial acetylation.
[PMID 3866233
] Amino-terminal processing of proteins: hemoglobin South Florida, a variant with retention of initiator methionine and N alpha-acetylation.
