rs34933751
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs34933751(C;G) |
| Make rs34933751(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225715 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34933751 |
| dbSNP (classic) | rs34933751 |
| ClinGen | rs34933751 |
| ebi | rs34933751 |
| HLI | rs34933751 |
| Exac | rs34933751 |
| Gnomad | rs34933751 |
| Varsome | rs34933751 |
| LitVar | rs34933751 |
| Map | rs34933751 |
| PheGenI | rs34933751 |
| Biobank | rs34933751 |
| 1000 genomes | rs34933751 |
| hgdp | rs34933751 |
| ensembl | rs34933751 |
| geneview | rs34933751 |
| scholar | rs34933751 |
| rs34933751 | |
| pharmgkb | rs34933751 |
| gwascentral | rs34933751 |
| openSNP | rs34933751 |
| 23andMe | rs34933751 |
| SNPshot | rs34933751 |
| SNPdbe | rs34933751 |
| MSV3d | rs34933751 |
| GWAS Ctlg | rs34933751 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34933751(A;A) rs34933751(G;G) rs34933751(T;T) |
| Alt | rs34933751(A;A) rs34933751(G;G) rs34933751(T;T) |
| Reference | Rs34933751(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN PRESBYTERIAN |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN PRESBYTERIAN |
| Reversed | 1 |
| HGVS | NC_000011.10:g.5225715G>Y |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016558.3, |
[PMID 500379] Hemoglobin Presbyterian [beta 108 (G10) Asn replaced by Lys] in a German family.
[PMID 668922] Hemoglobin Presbyterian: beta108 (G10) asparagine leads to lysine, A hemoglobin variant with low oxygen affinity.
[PMID 3101357] Haemoglobin Presbyterian [beta 108 (G 10) Asn----Lys] in a Spanish family.
[PMID 6309649] DNA restriction mapping identifies the chromosome carrying the mutant Hb Presbyterian beta-globin gene.
