rs33986902
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs33986902(A;T) |
| Make rs33986902(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 176736 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33986902 |
| dbSNP (classic) | rs33986902 |
| ClinGen | rs33986902 |
| ebi | rs33986902 |
| HLI | rs33986902 |
| Exac | rs33986902 |
| Gnomad | rs33986902 |
| Varsome | rs33986902 |
| LitVar | rs33986902 |
| Map | rs33986902 |
| PheGenI | rs33986902 |
| Biobank | rs33986902 |
| 1000 genomes | rs33986902 |
| hgdp | rs33986902 |
| ensembl | rs33986902 |
| geneview | rs33986902 |
| scholar | rs33986902 |
| rs33986902 | |
| pharmgkb | rs33986902 |
| gwascentral | rs33986902 |
| openSNP | rs33986902 |
| 23andMe | rs33986902 |
| SNPshot | rs33986902 |
| SNPdbe | rs33986902 |
| MSV3d | rs33986902 |
| GWAS Ctlg | rs33986902 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33986902(C;C) rs33986902(G;G) rs33986902(T;T) |
| Alt | rs33986902(C;C) rs33986902(G;G) rs33986902(T;T) |
| Reference | Rs33986902(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN SAWARA HEMOGLOBIN SWAN RIVER HEMOGLOBIN FERNDOWN |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN SAWARA HEMOGLOBIN SWAN RIVER HEMOGLOBIN FERNDOWN |
| Reversed | 0 |
| HGVS | NC_000016.9:g.226735A>C; NC_000016.9:g.226735A>G; NC_000016.9:g.226735A>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017150.2, RCV000017165.2, RCV000017019.2, |
[PMID 20980] Increased oxygen affinity for hemoglobin Sawara: alphaA4(6) aspartic acid replaced by alanine.
[PMID 1241593] Studies of abnormal hemoglobins in western Japan. Frequency of visible hemoglobin variants, and chemical characterization of hemoglobin Sawara (alpha 26Alabeta2) and hemoglobin Mugino (Hb L Ferrara; alpha247Glybeta2).
[PMID 4744335] Hemoglobin Sawara: alpha 6(A4) aspartic acid leads to alanine.
[PMID 7238857] Haemoglobin Ferndown (alpha 6 [A4] aspartic acid replaced by valine).
[PMID 2753737] Hb Swan River [alpha 6(A4) Asp----Gly] initial identification in an Australian family.
[PMID 3583768] Hemoglobin Swan River [alpha 6(A4)Asp----Gly].
[PMID 8745434] HB Swan River [alpha 6(A4)ASP-->Gly] observed in a Japanese man.
