rs34868397
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs34868397(C;G) |
| Make rs34868397(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226758 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34868397 |
| dbSNP (classic) | rs34868397 |
| ClinGen | rs34868397 |
| ebi | rs34868397 |
| HLI | rs34868397 |
| Exac | rs34868397 |
| Gnomad | rs34868397 |
| Varsome | rs34868397 |
| LitVar | rs34868397 |
| Map | rs34868397 |
| PheGenI | rs34868397 |
| Biobank | rs34868397 |
| 1000 genomes | rs34868397 |
| hgdp | rs34868397 |
| ensembl | rs34868397 |
| geneview | rs34868397 |
| scholar | rs34868397 |
| rs34868397 | |
| pharmgkb | rs34868397 |
| gwascentral | rs34868397 |
| openSNP | rs34868397 |
| 23andMe | rs34868397 |
| SNPshot | rs34868397 |
| SNPdbe | rs34868397 |
| MSV3d | rs34868397 |
| GWAS Ctlg | rs34868397 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34868397(G;G) |
| Alt | rs34868397(G;G) |
| Reference | Rs34868397(C;C) |
| Significance | Pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | HBB |
| CLNDBN | not specified |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247988G>C |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016491.3, |
[PMID 2434529
] Hemoglobin Mississippi (beta 44ser----cys). Studies of the thalassemic phenotype in a mixed heterozygote with beta +-thalassemia.
