rs33984024
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33984024(A;A) |
| Make rs33984024(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177026 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33984024 |
| dbSNP (classic) | rs33984024 |
| ClinGen | rs33984024 |
| ebi | rs33984024 |
| HLI | rs33984024 |
| Exac | rs33984024 |
| Gnomad | rs33984024 |
| Varsome | rs33984024 |
| LitVar | rs33984024 |
| Map | rs33984024 |
| PheGenI | rs33984024 |
| Biobank | rs33984024 |
| 1000 genomes | rs33984024 |
| hgdp | rs33984024 |
| ensembl | rs33984024 |
| geneview | rs33984024 |
| scholar | rs33984024 |
| rs33984024 | |
| pharmgkb | rs33984024 |
| gwascentral | rs33984024 |
| openSNP | rs33984024 |
| 23andMe | rs33984024 |
| SNPshot | rs33984024 |
| SNPdbe | rs33984024 |
| MSV3d | rs33984024 |
| GWAS Ctlg | rs33984024 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33984024(A;A) rs33984024(C;C) rs33984024(T;T) |
| Alt | rs33984024(A;A) rs33984024(C;C) rs33984024(T;T) |
| Reference | Rs33984024(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN G (WAIMANALO) HEMOGLOBIN AIDA HEMOGLOBIN Q (INDIA) HEMOGLOBIN PERSPOLIS |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN G (WAIMANALO) HEMOGLOBIN AIDA HEMOGLOBIN Q (INDIA) HEMOGLOBIN PERSPOLIS |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227025G>A; NC_000016.9:g.227025G>C; NC_000016.9:g.227025G>T |
| CLNSRC | OMIM Allelic Variant HBVAR UniProtKB (protein) |
| CLNACC | RCV000017034.2, RCV000017035.2, RCV000017144.2, RCV000017139.2, |
[PMID 1259994] Two new haemoglobins: haemoglobin Perspolis (alpha 64 (E13) Asp leads to Tyr) and haemoglobin J-Kurosh (alpha 19 (AB) Ala leads to Asp).
[PMID 949043] Hemoglobin QIndia, alpha 64 (E13) Asp replaced by His, and beta-thalassemia in a Canadian family.
[PMID 4646552
] Haemoglobin Q India (alpha 64(E13) aspartic acid histidine) associated with beta-thalassemia observed in three Sindhi families.
[PMID 6585831] beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects.
