rs35685286
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs35685286(A;A) |
| Make rs35685286(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 5226933 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35685286 |
| dbSNP (classic) | rs35685286 |
| ClinGen | rs35685286 |
| ebi | rs35685286 |
| HLI | rs35685286 |
| Exac | rs35685286 |
| Gnomad | rs35685286 |
| Varsome | rs35685286 |
| LitVar | rs35685286 |
| Map | rs35685286 |
| PheGenI | rs35685286 |
| Biobank | rs35685286 |
| 1000 genomes | rs35685286 |
| hgdp | rs35685286 |
| ensembl | rs35685286 |
| geneview | rs35685286 |
| scholar | rs35685286 |
| rs35685286 | |
| pharmgkb | rs35685286 |
| gwascentral | rs35685286 |
| openSNP | rs35685286 |
| 23andMe | rs35685286 |
| SNPshot | rs35685286 |
| SNPdbe | rs35685286 |
| MSV3d | rs35685286 |
| GWAS Ctlg | rs35685286 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35685286(A;A) |
| Alt | rs35685286(A;A) |
| Reference | Rs35685286(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN LUFKIN |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN LUFKIN |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248163C>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016460.2, |
[PMID 24022] Hemoglobin Lufkin: beta 29 (B11) Gly replaced by Asp. An unstable hemoglobin variant involving an internal amino acid residue.
[PMID 8537234] Hb S-Hb Lufkin disease in a black male infant.
