rs34703513
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| (CC;CC) | 0 | common in clinvar |
| Make rs34703513(A;A) |
| Make rs34703513(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226776 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34703513 |
| dbSNP (classic) | rs34703513 |
| ClinGen | rs34703513 |
| ebi | rs34703513 |
| HLI | rs34703513 |
| Exac | rs34703513 |
| Gnomad | rs34703513 |
| Varsome | rs34703513 |
| LitVar | rs34703513 |
| Map | rs34703513 |
| PheGenI | rs34703513 |
| Biobank | rs34703513 |
| 1000 genomes | rs34703513 |
| hgdp | rs34703513 |
| ensembl | rs34703513 |
| geneview | rs34703513 |
| scholar | rs34703513 |
| rs34703513 | |
| pharmgkb | rs34703513 |
| gwascentral | rs34703513 |
| openSNP | rs34703513 |
| 23andMe | rs34703513 |
| SNPshot | rs34703513 |
| SNPdbe | rs34703513 |
| MSV3d | rs34703513 |
| GWAS Ctlg | rs34703513 |
| Merged from | Rs111033585 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34703513(A;A) rs34703513(T;T) |
| Alt | rs34703513(A;A) rs34703513(T;T) |
| Reference | Rs34703513(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN LA CORUNA HEMOGLOBIN HINWIL |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN LA CORUNA HEMOGLOBIN HINWIL |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248006G>A; NC_000011.9:g.5248006G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016889.2, RCV000016815.2, |
[PMID 8745430] HB Hinwil or beta 38(C4)Thr-->Asn: a new beta chain variant detected in a Swiss family.
[PMID 16840229] Hb La Coruna [beta38(C4)Thr-->Ile]: a new hemoglobin variant leading to familial polycythemia.
