rs35203747
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs35203747(A;A) |
| Make rs35203747(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226981 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35203747 |
| dbSNP (classic) | rs35203747 |
| ClinGen | rs35203747 |
| ebi | rs35203747 |
| HLI | rs35203747 |
| Exac | rs35203747 |
| Gnomad | rs35203747 |
| Varsome | rs35203747 |
| LitVar | rs35203747 |
| Map | rs35203747 |
| PheGenI | rs35203747 |
| Biobank | rs35203747 |
| 1000 genomes | rs35203747 |
| hgdp | rs35203747 |
| ensembl | rs35203747 |
| geneview | rs35203747 |
| scholar | rs35203747 |
| rs35203747 | |
| pharmgkb | rs35203747 |
| gwascentral | rs35203747 |
| openSNP | rs35203747 |
| 23andMe | rs35203747 |
| SNPshot | rs35203747 |
| SNPdbe | rs35203747 |
| MSV3d | rs35203747 |
| GWAS Ctlg | rs35203747 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35203747(A;A) |
| Alt | rs35203747(A;A) |
| Reference | Rs35203747(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN J (LENS) |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN J (LENS) |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248211G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016420.2, |
[PMID 7319057] Structural studies of a new hemoglobin: HbJ lens, beta 13(A10) Ala leads to Asp.
