rs33964507
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs33964507(A;T) |
| Make rs33964507(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 176799 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33964507 |
| dbSNP (classic) | rs33964507 |
| ClinGen | rs33964507 |
| ebi | rs33964507 |
| HLI | rs33964507 |
| Exac | rs33964507 |
| Gnomad | rs33964507 |
| Varsome | rs33964507 |
| LitVar | rs33964507 |
| Map | rs33964507 |
| PheGenI | rs33964507 |
| Biobank | rs33964507 |
| 1000 genomes | rs33964507 |
| hgdp | rs33964507 |
| ensembl | rs33964507 |
| geneview | rs33964507 |
| scholar | rs33964507 |
| rs33964507 | |
| pharmgkb | rs33964507 |
| gwascentral | rs33964507 |
| openSNP | rs33964507 |
| 23andMe | rs33964507 |
| SNPshot | rs33964507 |
| SNPdbe | rs33964507 |
| MSV3d | rs33964507 |
| GWAS Ctlg | rs33964507 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33964507(C;C) rs33964507(G;G) rs33964507(T;T) |
| Alt | rs33964507(C;C) rs33964507(G;G) rs33964507(T;T) |
| Reference | Rs33964507(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN G (FORT WORTH) HEMOGLOBIN FORT WORTH |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN G (FORT WORTH) HEMOGLOBIN FORT WORTH |
| Reversed | 0 |
| HGVS | NC_000016.9:g.226798A>G |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017023.2, RCV000017024.2, |
[PMID 3839776] Hb Fort Worth or alpha2 27(B8)Glu----Gly beta2 in a black family from Canada.
[PMID 5122655] Hb Ft. Worth: a27Glu changed to Gly(B8). A variant present in unusually low concentration.
[PMID 1268216] Haemoglobin Spanish Town alpha27 Glu replaced by Val (B8).
[PMID 2752146] Locus assignment of two alpha-globin structural mutants from the Caribbean basin: alpha Fort de France (alpha 45 Arg) and alpha Spanish Town (alpha 27 Val).
[PMID 9658939] [Abnormal hemoglobins and thalassemias in Mexico].
[PMID 12144063] Compound heterozygosity for Hb Spanish town [alpha27(B8)Glu-->Val], Hb S [beta6(A3)Glu-->Val] and the -alpha(3.7kb) thalassemia deletion.
[PMID 11482884] Rapid identification of hemoglobin variants by electrospray ionization mass spectrometry.
