rs33915947
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33915947(G;T) |
| Make rs33915947(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177089 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33915947 |
| dbSNP (classic) | rs33915947 |
| ClinGen | rs33915947 |
| ebi | rs33915947 |
| HLI | rs33915947 |
| Exac | rs33915947 |
| Gnomad | rs33915947 |
| Varsome | rs33915947 |
| LitVar | rs33915947 |
| Map | rs33915947 |
| PheGenI | rs33915947 |
| Biobank | rs33915947 |
| 1000 genomes | rs33915947 |
| hgdp | rs33915947 |
| ensembl | rs33915947 |
| geneview | rs33915947 |
| scholar | rs33915947 |
| rs33915947 | |
| pharmgkb | rs33915947 |
| gwascentral | rs33915947 |
| openSNP | rs33915947 |
| 23andMe | rs33915947 |
| SNPshot | rs33915947 |
| SNPdbe | rs33915947 |
| MSV3d | rs33915947 |
| GWAS Ctlg | rs33915947 |
| Merged from | Rs63750958 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33915947(A;A) rs33915947(C;C) rs33915947(T;T) |
| Alt | rs33915947(A;A) rs33915947(C;C) rs33915947(T;T) |
| Reference | Rs33915947(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN G (NORFOLK) HEMOGLOBIN ATAGO |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN G (NORFOLK) HEMOGLOBIN ATAGO |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227088G>A; NC_000016.9:g.227088G>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017026.2, RCV000016992.2, |
[PMID 234399] Haemoglobin G Norfolk alpha 85 (F6) Asp leads to Asn. Structural characterization by sequenator analysis and functional properties of a new variant with high oxygen affinity.
[PMID 1115797] Haemoglobin G Norfolk: alpha 85 (F6) Asp leads to Asn.
[PMID 5115619] Hemoglobin Atago (alpha2-85Tyr beta-2) a new abnormal human hemoglobin found in Nagasaki. Biochemical studies on hemoglobins and myoglobins. VI.
