rs3180281
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs3180281(A;A) |
| Make rs3180281(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177048 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3180281 |
| dbSNP (classic) | rs3180281 |
| ClinGen | rs3180281 |
| ebi | rs3180281 |
| HLI | rs3180281 |
| Exac | rs3180281 |
| Gnomad | rs3180281 |
| Varsome | rs3180281 |
| LitVar | rs3180281 |
| Map | rs3180281 |
| PheGenI | rs3180281 |
| Biobank | rs3180281 |
| 1000 genomes | rs3180281 |
| hgdp | rs3180281 |
| ensembl | rs3180281 |
| geneview | rs3180281 |
| scholar | rs3180281 |
| rs3180281 | |
| pharmgkb | rs3180281 |
| gwascentral | rs3180281 |
| openSNP | rs3180281 |
| 23andMe | rs3180281 |
| SNPshot | rs3180281 |
| SNPdbe | rs3180281 |
| MSV3d | rs3180281 |
| GWAS Ctlg | rs3180281 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs3180281(A;A) rs3180281(G;G) rs3180281(T;T) |
| Alt | rs3180281(A;A) rs3180281(G;G) rs3180281(T;T) |
| Reference | Rs3180281(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN J (HABANA) HEMOGLOBIN OZIERI |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN J (HABANA) HEMOGLOBIN OZIERI |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227047C>A; NC_000016.9:g.227047C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017064.2, RCV000017193.2, |
[PMID 3957691] The survey of abnormal hemoglobins in the Kobe district: Hb G-Coushatta [beta 22(B4)Glu----Ala], Hb Ankara (beta 10(A7)Ala----Asp], Hb Handa [alpha 90(FG2)Lys----Met], and Hb J-Habana [alpha 71(E20)Ala----Glu].
[PMID 4834679] A new haemoglobin J-Habana-alpha71(E20) alanine leads to glutamic acid.
[PMID 6618889] Hemoglobin J Habana found in a cord blood of a Japanese.
