rs33911106
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs33911106(A;G) |
| Make rs33911106(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177105 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33911106 |
| dbSNP (classic) | rs33911106 |
| ClinGen | rs33911106 |
| ebi | rs33911106 |
| HLI | rs33911106 |
| Exac | rs33911106 |
| Gnomad | rs33911106 |
| Varsome | rs33911106 |
| LitVar | rs33911106 |
| Map | rs33911106 |
| PheGenI | rs33911106 |
| Biobank | rs33911106 |
| 1000 genomes | rs33911106 |
| hgdp | rs33911106 |
| ensembl | rs33911106 |
| geneview | rs33911106 |
| scholar | rs33911106 |
| rs33911106 | |
| pharmgkb | rs33911106 |
| gwascentral | rs33911106 |
| openSNP | rs33911106 |
| 23andMe | rs33911106 |
| SNPshot | rs33911106 |
| SNPdbe | rs33911106 |
| MSV3d | rs33911106 |
| GWAS Ctlg | rs33911106 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33911106(C;C) rs33911106(G;G) rs33911106(T;T) |
| Alt | rs33911106(C;C) rs33911106(G;G) rs33911106(T;T) |
| Reference | Rs33911106(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN J (RAJAPPEN) HEMOGLOBIN HANDA HEMOGLOBIN MUNAKATA |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN J (RAJAPPEN) HEMOGLOBIN HANDA HEMOGLOBIN MUNAKATA |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227104A>C; NC_000016.9:g.227104A>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017070.2, RCV000017044.3, RCV000017045.3, |
[PMID 5129592] Haemoglobin J Rajappen; 90 (FG2) Lys leads to Thr.
[PMID 7803274] The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.
[PMID 3957691] The survey of abnormal hemoglobins in the Kobe district: Hb G-Coushatta [beta 22(B4)Glu----Ala], Hb Ankara (beta 10(A7)Ala----Asp], Hb Handa [alpha 90(FG2)Lys----Met], and Hb J-Habana [alpha 71(E20)Ala----Glu].
[PMID 6403040] A new electrophoretic variant of hemoglobin (Munakata) in which a lysine residue is replaced by a methionine residue at position 90 of the alpha-chain.
[PMID 6815131] HB Handa [alpha 90 (FG 2) Lys replaced by Met]: structure and biosynthesis of a new slightly higher oxygen affinity variant.
[PMID 12908804] Hb Clinico-Madrid II [alpha90(FG2)Lys-->Arg (alpha1)] and Hb El Escorial [alpha96(G3)Val-->Asp (alpha2)]: two new a chain variants found during a neonatal period study.
