rs33924134
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs33924134(A;G) |
| Make rs33924134(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225681 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33924134 |
| dbSNP (classic) | rs33924134 |
| ClinGen | rs33924134 |
| ebi | rs33924134 |
| HLI | rs33924134 |
| Exac | rs33924134 |
| Gnomad | rs33924134 |
| Varsome | rs33924134 |
| LitVar | rs33924134 |
| Map | rs33924134 |
| PheGenI | rs33924134 |
| Biobank | rs33924134 |
| 1000 genomes | rs33924134 |
| hgdp | rs33924134 |
| ensembl | rs33924134 |
| geneview | rs33924134 |
| scholar | rs33924134 |
| rs33924134 | |
| pharmgkb | rs33924134 |
| gwascentral | rs33924134 |
| openSNP | rs33924134 |
| 23andMe | rs33924134 |
| SNPshot | rs33924134 |
| SNPdbe | rs33924134 |
| MSV3d | rs33924134 |
| GWAS Ctlg | rs33924134 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33924134(C;C) rs33924134(G;G) |
| Alt | rs33924134(C;C) rs33924134(G;G) |
| Reference | Rs33924134(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN HIJIYAMA HEMOGLOBIN TAKAMATSU |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN HIJIYAMA HEMOGLOBIN TAKAMATSU |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246911T>C; NC_000011.9:g.5246911T>G |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016378.2, RCV000016622.2, |
[PMID 5634912] Hemoglobin Hijiyama: a new fast-moving hemoglobin in a Japanese family.
[PMID 6123395] Haemoglobin Hijiyama: a haemoglobin variant found in connection with glycosylated haemoglobin estimation in a Finnish diabetic boy.
[PMID 7390862] Hemoglobin takamatsu (beta 120 (GH 3) Lys leads to Gln): a new abnormal hemoglobin detected in three unrelated families in the takamatsu area of shikoku.
[PMID 11127269
] Abnormal haemoglobins, Hb Takamatsu and Hb G-Szuhu, detected during the analysis of glycated haemoglobin (HbA1C) by high performance liquid chromatography.
