rs33924146
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs33924146(G;G) |
| Make rs33924146(G;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 5226765 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33924146 |
| dbSNP (classic) | rs33924146 |
| ClinGen | rs33924146 |
| ebi | rs33924146 |
| HLI | rs33924146 |
| Exac | rs33924146 |
| Gnomad | rs33924146 |
| Varsome | rs33924146 |
| LitVar | rs33924146 |
| Map | rs33924146 |
| PheGenI | rs33924146 |
| Biobank | rs33924146 |
| 1000 genomes | rs33924146 |
| hgdp | rs33924146 |
| ensembl | rs33924146 |
| geneview | rs33924146 |
| scholar | rs33924146 |
| rs33924146 | |
| pharmgkb | rs33924146 |
| gwascentral | rs33924146 |
| openSNP | rs33924146 |
| 23andMe | rs33924146 |
| SNPshot | rs33924146 |
| SNPdbe | rs33924146 |
| MSV3d | rs33924146 |
| GWAS Ctlg | rs33924146 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33924146(C;C) rs33924146(G;G) |
| Alt | rs33924146(C;C) rs33924146(G;G) |
| Reference | Rs33924146(T;T) |
| Significance | Pathogenic |
| Disease | Hemolytic anemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | Hemolytic anemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247995A>C; NC_000011.9:g.5247995A>G |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016590.6, RCV000016458.6, |
[PMID 640848] Hemoglobin Louisville (beta 42 (CD1) phenylalanine replaced by leucine) occurring as a fresh mutation in a Canadian woman.
[PMID 1177282
] A new case of haemoglobin Bucuresti in a Cuban family: further functional studies.
[PMID 5096522] Hemoglobin Louisville (beta-42 (CD1) phe-leu): an unstable variant causing mild hemolytic anemia.
[PMID 5133275] Haemoglobin Buccuresti 42(CD1) Phe-Leu, a cause of unstable haemoglobin haemolytic anaemia.
[PMID 2294098] Hemoglobin Warsaw (Phe beta 42(CD1)----Val), an unstable variant with decreased oxygen affinity. Characterization of its synthesis, functional properties, and structure.
[PMID 2757001] Hb Warsaw (beta 42 Phe----Val): an unstable hemoglobin with decreased oxygen affinity. I. Hematologic and clinical expression.
[PMID 3781864] Hemoglobin Sendagi (beta 42 Phe----Val): a new unstable hemoglobin variant having an amino acid substitution at CD1 of the beta-chain.
