rs33978134
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs33978134(C;G) |
| Make rs33978134(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 176967 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33978134 |
| dbSNP (classic) | rs33978134 |
| ClinGen | rs33978134 |
| ebi | rs33978134 |
| HLI | rs33978134 |
| Exac | rs33978134 |
| Gnomad | rs33978134 |
| Varsome | rs33978134 |
| LitVar | rs33978134 |
| Map | rs33978134 |
| PheGenI | rs33978134 |
| Biobank | rs33978134 |
| 1000 genomes | rs33978134 |
| hgdp | rs33978134 |
| ensembl | rs33978134 |
| geneview | rs33978134 |
| scholar | rs33978134 |
| rs33978134 | |
| pharmgkb | rs33978134 |
| gwascentral | rs33978134 |
| openSNP | rs33978134 |
| 23andMe | rs33978134 |
| SNPshot | rs33978134 |
| SNPdbe | rs33978134 |
| MSV3d | rs33978134 |
| GWAS Ctlg | rs33978134 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33978134(G;G) rs33978134(T;T) |
| Alt | rs33978134(G;G) rs33978134(T;T) |
| Reference | Rs33978134(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN KAWACHI HEMOGLOBIN MILLEDGEVILLE |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN KAWACHI HEMOGLOBIN MILLEDGEVILLE |
| Reversed | 0 |
| HGVS | NC_000016.9:g.226966C>G; NC_000016.9:g.226966C>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017080.3, RCV000017114.2, |
[PMID 7213661] Hemoglobin Milledgeville (alpha 44 (CD2) Pro leads to Leu): a new variant with increased oxygen affinity.
[PMID 12403493] Thrombotic events in compound heterozygotes for a high affinity hemoglobin variant: Hb Milledgeville [alpha44(CE2)Pro-->Leu (alpha2)] and factor V Leiden.
[PMID 7068434] Hemoglobin Kawachi [alpha 44 (CE2) Pro leads to Arg]: a new hemoglobin variant of high oxygen affinity with amino acid substitution at alpha 1 beta 2 contact.
