rs34747494
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs34747494(A;G) |
| Make rs34747494(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5249499 |
| Gene | HBG1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34747494 |
| dbSNP (classic) | rs34747494 |
| ClinGen | rs34747494 |
| ebi | rs34747494 |
| HLI | rs34747494 |
| Exac | rs34747494 |
| Gnomad | rs34747494 |
| Varsome | rs34747494 |
| LitVar | rs34747494 |
| Map | rs34747494 |
| PheGenI | rs34747494 |
| Biobank | rs34747494 |
| 1000 genomes | rs34747494 |
| hgdp | rs34747494 |
| ensembl | rs34747494 |
| geneview | rs34747494 |
| scholar | rs34747494 |
| rs34747494 | |
| pharmgkb | rs34747494 |
| gwascentral | rs34747494 |
| openSNP | rs34747494 |
| 23andMe | rs34747494 |
| SNPshot | rs34747494 |
| SNPdbe | rs34747494 |
| MSV3d | rs34747494 |
| GWAS Ctlg | rs34747494 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34747494(G;G) |
| Alt | rs34747494(G;G) |
| Reference | Rs34747494(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN F (JAMAICA) |
| Variation | info |
| Gene | HBG1 |
| CLNDBN | HEMOGLOBIN F (JAMAICA) |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5270729T>C |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016157.1, |
[PMID 5491586] Haemoglobin F Jamaica (alpha-2 gamma-2 61 Lys leads to Glu; 136 Ala).
