rs33965000
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs33965000(C;T) |
| Make rs33965000(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226590 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33965000 |
| dbSNP (classic) | rs33965000 |
| ClinGen | rs33965000 |
| ebi | rs33965000 |
| HLI | rs33965000 |
| Exac | rs33965000 |
| Gnomad | rs33965000 |
| Varsome | rs33965000 |
| LitVar | rs33965000 |
| Map | rs33965000 |
| PheGenI | rs33965000 |
| Biobank | rs33965000 |
| 1000 genomes | rs33965000 |
| hgdp | rs33965000 |
| ensembl | rs33965000 |
| geneview | rs33965000 |
| scholar | rs33965000 |
| rs33965000 | |
| pharmgkb | rs33965000 |
| gwascentral | rs33965000 |
| openSNP | rs33965000 |
| 23andMe | rs33965000 |
| SNPshot | rs33965000 |
| SNPdbe | rs33965000 |
| MSV3d | rs33965000 |
| GWAS Ctlg | rs33965000 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33965000(G;G) rs33965000(T;T) |
| Alt | rs33965000(G;G) rs33965000(T;T) |
| Reference | Rs33965000(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN BRIGHAM HEMOGLOBIN NEW MEXICO |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN BRIGHAM HEMOGLOBIN NEW MEXICO |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247820G>A; NC_000011.9:g.5247820G>C |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016271.3, RCV000016515.3, |
[PMID 4719677
] Hemoglobin brigham (alpha2Abeta2100 Pro--Leu). Hemoglobin variant associated with familial erythrocytosis.
[PMID 3840697] Hemoglobin New Mexico: beta 100 (G2) Pro----Arg. A variant hemoglobin associated with erythrocytosis.
