rs35485099
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs35485099(A;A) |
| Make rs35485099(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225695 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35485099 |
| dbSNP (classic) | rs35485099 |
| ClinGen | rs35485099 |
| ebi | rs35485099 |
| HLI | rs35485099 |
| Exac | rs35485099 |
| Gnomad | rs35485099 |
| Varsome | rs35485099 |
| LitVar | rs35485099 |
| Map | rs35485099 |
| PheGenI | rs35485099 |
| Biobank | rs35485099 |
| 1000 genomes | rs35485099 |
| hgdp | rs35485099 |
| ensembl | rs35485099 |
| geneview | rs35485099 |
| scholar | rs35485099 |
| rs35485099 | |
| pharmgkb | rs35485099 |
| gwascentral | rs35485099 |
| openSNP | rs35485099 |
| 23andMe | rs35485099 |
| SNPshot | rs35485099 |
| SNPdbe | rs35485099 |
| MSV3d | rs35485099 |
| GWAS Ctlg | rs35485099 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35485099(A;A) rs35485099(T;T) |
| Alt | rs35485099(A;A) rs35485099(T;T) |
| Reference | Rs35485099(C;C) |
| Significance | Pathogenic |
| Disease | Hemoglobinopathy |
| Variation | info |
| Gene | HBB |
| CLNDBN | Hemoglobinopathy |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246925G>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016791.3, |
[PMID 7693620] Hb Hradec Kralove (Hb HK) or alpha 2 beta 2 115(G17)Ala-->Asp, a severely unstable hemoglobin variant resulting in a dominant beta-thalassemia trait in a Czech family.
[PMID 19900509] A new beta-chain haemoglobin variant with increased oxygen affinity: Hb Roma [beta115(g17)Ala-->Val].
