rs33935328
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33935328(G;T) |
| Make rs33935328(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 16 |
| Position | 177407 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33935328 |
| dbSNP (classic) | rs33935328 |
| ClinGen | rs33935328 |
| ebi | rs33935328 |
| HLI | rs33935328 |
| Exac | rs33935328 |
| Gnomad | rs33935328 |
| Varsome | rs33935328 |
| LitVar | rs33935328 |
| Map | rs33935328 |
| PheGenI | rs33935328 |
| Biobank | rs33935328 |
| 1000 genomes | rs33935328 |
| hgdp | rs33935328 |
| ensembl | rs33935328 |
| geneview | rs33935328 |
| scholar | rs33935328 |
| rs33935328 | |
| pharmgkb | rs33935328 |
| gwascentral | rs33935328 |
| openSNP | rs33935328 |
| 23andMe | rs33935328 |
| SNPshot | rs33935328 |
| SNPdbe | rs33935328 |
| MSV3d | rs33935328 |
| GWAS Ctlg | rs33935328 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33935328(A;A) rs33935328(C;C) rs33935328(T;T) |
| Alt | rs33935328(A;A) rs33935328(C;C) rs33935328(T;T) |
| Reference | Rs33935328(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN SURESNES HEMOGLOBIN SINGAPORE HEMOGLOBIN LEGNANO |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN SURESNES HEMOGLOBIN SINGAPORE HEMOGLOBIN LEGNANO |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227406G>A; NC_000016.9:g.227406G>C; NC_000016.9:g.227406G>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017164.2, RCV000017157.2, RCV000017093.2, |
[PMID 5782115] Two new haemoglobin variants involving proline substitutions.
[PMID 11123] Structural and functional studies of haemoglobin Suresnes or alpha2 141 (HC3) Arg replaced by His beta2, a new high oxygen affinity mutant.
[PMID 640857] Hb Suresnes or alpha2 141(HC3) ArgyieldHis beta2 in a black family.
[PMID 7410435] Structural and functional studies of hemoglobin Suresnes (arg 141 alpha 2 replaced by His beta 2). Consequences of disrupting an oxygen-linked anion-binding site.
[PMID 701083] Hemoglobin Legnano (alpha2 141 (HC3) Arg replaced by Leu beta2): a new abnormal human hemoglobin with high oxygen affinity.
