rs33938574
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs33938574(A;G) |
| Make rs33938574(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 176750 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33938574 |
| dbSNP (classic) | rs33938574 |
| ClinGen | rs33938574 |
| ebi | rs33938574 |
| HLI | rs33938574 |
| Exac | rs33938574 |
| Gnomad | rs33938574 |
| Varsome | rs33938574 |
| LitVar | rs33938574 |
| Map | rs33938574 |
| PheGenI | rs33938574 |
| Biobank | rs33938574 |
| 1000 genomes | rs33938574 |
| hgdp | rs33938574 |
| ensembl | rs33938574 |
| geneview | rs33938574 |
| scholar | rs33938574 |
| rs33938574 | |
| pharmgkb | rs33938574 |
| gwascentral | rs33938574 |
| openSNP | rs33938574 |
| 23andMe | rs33938574 |
| SNPshot | rs33938574 |
| SNPdbe | rs33938574 |
| MSV3d | rs33938574 |
| GWAS Ctlg | rs33938574 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33938574(C;C) rs33938574(G;G) |
| Alt | rs33938574(C;C) rs33938574(G;G) |
| Reference | Rs33938574(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN WUMING HEMOGLOBIN J (WENCHANG-WUMING) HEMOGLOBIN ANANTHARAJ |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN WUMING HEMOGLOBIN J (WENCHANG-WUMING) HEMOGLOBIN ANANTHARAJ |
| Reversed | 0 |
| HGVS | NC_000016.9:g.226749A>C; NC_000016.9:g.226749A>G |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017174.2, RCV000017175.2, RCV000016989.2, |
[PMID 7338470] Hb Wuming or alpha 2 11(A9)Lys substituting for Gln beta 2.
[PMID 7904985] Identification of Hb Anantharaj [alpha 11(A9)Lys->Glu] as Hb J-Wenchang-Wuming [alpha 11(A9)Lys->Gln].
[PMID 8454471] Characterization of Hb Volga [beta 27(B9)Ala-->Asp] and Hb J-Wenchang-Wuming [alpha 11(A9)Lys-->Gln] in the population of the United States.
[PMID 8537231] Hb J-Wenchang-Wuming or alpha 11(A9)Lys-->Gln in an Italian woman.
