rs36062788
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs36062788(A;A) |
| Make rs36062788(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177006 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs36062788 |
| dbSNP (classic) | rs36062788 |
| ClinGen | rs36062788 |
| ebi | rs36062788 |
| HLI | rs36062788 |
| Exac | rs36062788 |
| Gnomad | rs36062788 |
| Varsome | rs36062788 |
| LitVar | rs36062788 |
| Map | rs36062788 |
| PheGenI | rs36062788 |
| Biobank | rs36062788 |
| 1000 genomes | rs36062788 |
| hgdp | rs36062788 |
| ensembl | rs36062788 |
| geneview | rs36062788 |
| scholar | rs36062788 |
| rs36062788 | |
| pharmgkb | rs36062788 |
| gwascentral | rs36062788 |
| openSNP | rs36062788 |
| 23andMe | rs36062788 |
| SNPshot | rs36062788 |
| SNPdbe | rs36062788 |
| MSV3d | rs36062788 |
| GWAS Ctlg | rs36062788 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs36062788(A;A) |
| Alt | rs36062788(A;A) |
| Reference | Rs36062788(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN NORFOLK HEMOGLOBIN J (NORFOLK) HEMOGLOBIN KAGOSHIMA HEMOGLOBIN NISHIK |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN NORFOLK HEMOGLOBIN J (NORFOLK) HEMOGLOBIN KAGOSHIMA HEMOGLOBIN NISHIK |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227005G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017121.3, RCV000017122.3, RCV000017123.3, RCV000017124.3, |
[PMID 1150256] Haemoglobin norfolk in nepali gorkhas.
[PMID 5927878
] Hemoglobin Kagoshima: an example of hemoglobin Norfolk in a Japanese family.
