rs35654345
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs35654345(G;G) |
| Make rs35654345(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177323 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35654345 |
| dbSNP (classic) | rs35654345 |
| ClinGen | rs35654345 |
| ebi | rs35654345 |
| HLI | rs35654345 |
| Exac | rs35654345 |
| Gnomad | rs35654345 |
| Varsome | rs35654345 |
| LitVar | rs35654345 |
| Map | rs35654345 |
| PheGenI | rs35654345 |
| Biobank | rs35654345 |
| 1000 genomes | rs35654345 |
| hgdp | rs35654345 |
| ensembl | rs35654345 |
| geneview | rs35654345 |
| scholar | rs35654345 |
| rs35654345 | |
| pharmgkb | rs35654345 |
| gwascentral | rs35654345 |
| openSNP | rs35654345 |
| 23andMe | rs35654345 |
| SNPshot | rs35654345 |
| SNPdbe | rs35654345 |
| MSV3d | rs35654345 |
| GWAS Ctlg | rs35654345 |
| Merged from | Rs63751116 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35654345(A;A) |
| Alt | rs35654345(A;A) |
| Reference | Rs35654345(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN TWIN PEAKS |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN TWIN PEAKS |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227322T>A |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017173.2, |
[PMID 3839772] Hemoglobin Twin Peaks alpha 113 (GH1) Leu----His.
[PMID 11259442] A role for the alpha 113 (GH1) amino acid residue in the polymerization of sickle hemoglobin. Evaluation of its inhibitory strength and interaction linkage with two fiber contact sites (alpha 16/23) located in the AB region of the alpha-chain.
