rs35723200
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs35723200(C;C) |
| Make rs35723200(C;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 16 |
| Position | 177403 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35723200 |
| dbSNP (classic) | rs35723200 |
| ClinGen | rs35723200 |
| ebi | rs35723200 |
| HLI | rs35723200 |
| Exac | rs35723200 |
| Gnomad | rs35723200 |
| Varsome | rs35723200 |
| LitVar | rs35723200 |
| Map | rs35723200 |
| PheGenI | rs35723200 |
| Biobank | rs35723200 |
| 1000 genomes | rs35723200 |
| hgdp | rs35723200 |
| ensembl | rs35723200 |
| geneview | rs35723200 |
| scholar | rs35723200 |
| rs35723200 | |
| pharmgkb | rs35723200 |
| gwascentral | rs35723200 |
| openSNP | rs35723200 |
| 23andMe | rs35723200 |
| SNPshot | rs35723200 |
| SNPdbe | rs35723200 |
| MSV3d | rs35723200 |
| GWAS Ctlg | rs35723200 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35723200(C;C) |
| Alt | rs35723200(C;C) |
| Reference | Rs35723200(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN ROUEN HEMOGLOBIN ETHIOPIA |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN ROUEN HEMOGLOBIN ETHIOPIA |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227402T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017201.2, RCV000017202.2, |
[PMID 1390944] Hemoglobin Rouen (alpha-140 (HC2) Tyr-->His): alteration of the alpha-chain C-terminal region and moderate increase in oxygen affinity.
[PMID 1428951] Hb Ethiopia or alpha 2(140)(HC2)Tyr----His beta 2.
