rs34240441
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs34240441(C;C) |
| Make rs34240441(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225622 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34240441 |
| dbSNP (classic) | rs34240441 |
| ClinGen | rs34240441 |
| ebi | rs34240441 |
| HLI | rs34240441 |
| Exac | rs34240441 |
| Gnomad | rs34240441 |
| Varsome | rs34240441 |
| LitVar | rs34240441 |
| Map | rs34240441 |
| PheGenI | rs34240441 |
| Biobank | rs34240441 |
| 1000 genomes | rs34240441 |
| hgdp | rs34240441 |
| ensembl | rs34240441 |
| geneview | rs34240441 |
| scholar | rs34240441 |
| rs34240441 | |
| pharmgkb | rs34240441 |
| gwascentral | rs34240441 |
| openSNP | rs34240441 |
| 23andMe | rs34240441 |
| SNPshot | rs34240441 |
| SNPdbe | rs34240441 |
| MSV3d | rs34240441 |
| GWAS Ctlg | rs34240441 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34240441(A;A) rs34240441(C;C) |
| Alt | rs34240441(A;A) rs34240441(C;C) |
| Reference | Rs34240441(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN HINSDALE |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN HINSDALE |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246852A>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016381.3, |
[PMID 2513289] Hb Hinsdale [beta 139 (H17)Asn----Lys]: a variant in the central cavity showing reduced affinity for oxygen and 2,3-diphosphoglycerate.
[PMID 8006968] Chloride masks effects of opposing positive charges in Hb A and Hb Hinsdale (beta 139 Asn-->Lys) that can modulate cooperativity as well as oxygen affinity.
