rs35914488
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs35914488(C;T) |
| Make rs35914488(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226638 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35914488 |
| dbSNP (classic) | rs35914488 |
| ClinGen | rs35914488 |
| ebi | rs35914488 |
| HLI | rs35914488 |
| Exac | rs35914488 |
| Gnomad | rs35914488 |
| Varsome | rs35914488 |
| LitVar | rs35914488 |
| Map | rs35914488 |
| PheGenI | rs35914488 |
| Biobank | rs35914488 |
| 1000 genomes | rs35914488 |
| hgdp | rs35914488 |
| ensembl | rs35914488 |
| geneview | rs35914488 |
| scholar | rs35914488 |
| rs35914488 | |
| pharmgkb | rs35914488 |
| gwascentral | rs35914488 |
| openSNP | rs35914488 |
| 23andMe | rs35914488 |
| SNPshot | rs35914488 |
| SNPdbe | rs35914488 |
| MSV3d | rs35914488 |
| GWAS Ctlg | rs35914488 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35914488(A;A) rs35914488(T;T) |
| Alt | rs35914488(A;A) rs35914488(T;T) |
| Reference | Rs35914488(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN KOFU |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN KOFU |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247868G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016442.2, |
[PMID 3744871] A new electrophoretically-silent hemoglobin variant: hemoglobin Kofu or alpha 2 beta 2 84 (EF8) Thr----Ile.
