rs34718174
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs34718174(A;A) |
| Make rs34718174(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226683 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34718174 |
| dbSNP (classic) | rs34718174 |
| ClinGen | rs34718174 |
| ebi | rs34718174 |
| HLI | rs34718174 |
| Exac | rs34718174 |
| Gnomad | rs34718174 |
| Varsome | rs34718174 |
| LitVar | rs34718174 |
| Map | rs34718174 |
| PheGenI | rs34718174 |
| Biobank | rs34718174 |
| 1000 genomes | rs34718174 |
| hgdp | rs34718174 |
| ensembl | rs34718174 |
| geneview | rs34718174 |
| scholar | rs34718174 |
| rs34718174 | |
| pharmgkb | rs34718174 |
| gwascentral | rs34718174 |
| openSNP | rs34718174 |
| 23andMe | rs34718174 |
| SNPshot | rs34718174 |
| SNPdbe | rs34718174 |
| MSV3d | rs34718174 |
| GWAS Ctlg | rs34718174 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34718174(A;A) |
| Alt | rs34718174(A;A) |
| Reference | Rs34718174(G;G) |
| Significance | Pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | HBB |
| CLNDBN | not specified |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247913C>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016423.4, |
[PMID 5856126] A new hemoglobin variant found in a Beduin tribe: Hemoglobin "Rambam".
[PMID 6048303] Haemoglobin G Copenhagen and haemoglobin J Cambridge. Two new beta-chain variants of haemoglobin A.
[PMID 9761252] Hemoglobin Rambam (beta69[E13]Gly-->Asp), a pitfall in the assessment of diabetic control: characterization by electrospray mass spectrometry and HPLC.
[PMID 10870889] Hb Rambam [beta69(E13)Gly-->Asp]/beta0-thalassemia [codon 5 (-CT)] in a family from Argentina.
