rs34484056
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs34484056(A;A) |
| Make rs34484056(A;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 5225701 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34484056 |
| dbSNP (classic) | rs34484056 |
| ClinGen | rs34484056 |
| ebi | rs34484056 |
| HLI | rs34484056 |
| Exac | rs34484056 |
| Gnomad | rs34484056 |
| Varsome | rs34484056 |
| LitVar | rs34484056 |
| Map | rs34484056 |
| PheGenI | rs34484056 |
| Biobank | rs34484056 |
| 1000 genomes | rs34484056 |
| hgdp | rs34484056 |
| ensembl | rs34484056 |
| geneview | rs34484056 |
| scholar | rs34484056 |
| rs34484056 | |
| pharmgkb | rs34484056 |
| gwascentral | rs34484056 |
| openSNP | rs34484056 |
| 23andMe | rs34484056 |
| SNPshot | rs34484056 |
| SNPdbe | rs34484056 |
| MSV3d | rs34484056 |
| GWAS Ctlg | rs34484056 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34484056(A;A) |
| Alt | rs34484056(A;A) |
| Reference | Rs34484056(T;T) |
| Significance | Pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | HBB |
| CLNDBN | not specified |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246931A>T |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016516.3, |
[PMID 1634358] Hb Kaohsiung or New York: a T----A substitution at codon 113 of the beta-globin chain creates an Alu I cutting site.
[PMID 5124025] Double heterozygosity for hemoglobin E and hemoglobin New York in a Thai family.
[PMID 6030043] Haemoglobin New York.
[PMID 7068436] Hemoglobin New York (alpha 2 beta 2 113(G15) Val leads to Glu) in China.
[PMID 7295768] Identification of an abnormal hemoglobin with reduced oxygen affinity by high-performance liquid chromatography.
[PMID 7437334] Globin chain synthesis in haemoglobin New York (beta 113 replaced by glutamic acid).
[PMID 12403232] Allele related mutation specific-polymerase chain reaction for rapid diagnosis of Hb New York (beta 113 (G15) Val-->Glu, beta(CD113 GTG-->GAG)).
