rs34504387
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs34504387(C;C) |
| Make rs34504387(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 176771 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34504387 |
| dbSNP (classic) | rs34504387 |
| ClinGen | rs34504387 |
| ebi | rs34504387 |
| HLI | rs34504387 |
| Exac | rs34504387 |
| Gnomad | rs34504387 |
| Varsome | rs34504387 |
| LitVar | rs34504387 |
| Map | rs34504387 |
| PheGenI | rs34504387 |
| Biobank | rs34504387 |
| 1000 genomes | rs34504387 |
| hgdp | rs34504387 |
| ensembl | rs34504387 |
| geneview | rs34504387 |
| scholar | rs34504387 |
| rs34504387 | |
| pharmgkb | rs34504387 |
| gwascentral | rs34504387 |
| openSNP | rs34504387 |
| 23andMe | rs34504387 |
| SNPshot | rs34504387 |
| SNPdbe | rs34504387 |
| MSV3d | rs34504387 |
| GWAS Ctlg | rs34504387 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34504387(C;C) rs34504387(T;T) |
| Alt | rs34504387(C;C) rs34504387(T;T) |
| Reference | Rs34504387(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN HANDSWORTH |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN HANDSWORTH |
| Reversed | 0 |
| HGVS | NC_000016.9:g.226770G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017037.2, |
[PMID 852596] Haemoglobin Handsworth alpha 18 (A16) glycine leads to arginne.
[PMID 4030381] Hemoglobin Handsworth or alpha2 18(A16)Gly----Arg beta2 in a Saudi newborn.
[PMID 7216818] Hemoglobin Handsworth (gamma 18 (A16) Gly leads to Arg) in a Chinese.
