rs33950542
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs33950542(C;C) |
| Make rs33950542(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226665 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33950542 |
| dbSNP (classic) | rs33950542 |
| ClinGen | rs33950542 |
| ebi | rs33950542 |
| HLI | rs33950542 |
| Exac | rs33950542 |
| Gnomad | rs33950542 |
| Varsome | rs33950542 |
| LitVar | rs33950542 |
| Map | rs33950542 |
| PheGenI | rs33950542 |
| Biobank | rs33950542 |
| 1000 genomes | rs33950542 |
| hgdp | rs33950542 |
| ensembl | rs33950542 |
| geneview | rs33950542 |
| scholar | rs33950542 |
| rs33950542 | |
| pharmgkb | rs33950542 |
| gwascentral | rs33950542 |
| openSNP | rs33950542 |
| 23andMe | rs33950542 |
| SNPshot | rs33950542 |
| SNPdbe | rs33950542 |
| MSV3d | rs33950542 |
| GWAS Ctlg | rs33950542 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33950542(C;C) rs33950542(G;G) |
| Alt | rs33950542(C;C) rs33950542(G;G) |
| Reference | Rs33950542(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN PASADENA HEMOGLOBIN ATLANTA HEMOGLOBIN ATLANTA-COVENTRY |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN PASADENA HEMOGLOBIN ATLANTA HEMOGLOBIN ATLANTA-COVENTRY |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247895A>C; NC_000011.9:g.5247895A>G |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016545.3, RCV000016254.2, RCV000016255.2, |
[PMID 1138885] Hemoglobin Atlanta or alpha 2 beta 2 75 Leu-Pro (E19): an unstable variant found in several members of a Caucasian family.
[PMID 3710819] Two de novo mutations in one beta globin chain: hemoglobin Atlanta-Coventry, beta 75 Leu----Pro and beta 141 Leu deleted.
[PMID 6618886] Two unstable hemoglobins in one individual: Hb Atlanta (beta 75 Leu leads to Pro) and Hb Coventry (beta 141 Leu deleted).
[PMID 8454467] Posttranslational modification of beta 141 Leu associated with the beta 75(E19)Leu-->Pro mutation in Hb Atlanta.
[PMID 7397219] Hemoglobin Pasadena,alpha 2 beta 275(E19)Leu leads to Arg. Identification by high performance liquid chromatography of a new unstable variant with increased oxygen affinity.
