rs33984621
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs33984621(C;T) |
| Make rs33984621(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177119 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33984621 |
| dbSNP (classic) | rs33984621 |
| ClinGen | rs33984621 |
| ebi | rs33984621 |
| HLI | rs33984621 |
| Exac | rs33984621 |
| Gnomad | rs33984621 |
| Varsome | rs33984621 |
| LitVar | rs33984621 |
| Map | rs33984621 |
| PheGenI | rs33984621 |
| Biobank | rs33984621 |
| 1000 genomes | rs33984621 |
| hgdp | rs33984621 |
| ensembl | rs33984621 |
| geneview | rs33984621 |
| scholar | rs33984621 |
| rs33984621 | |
| pharmgkb | rs33984621 |
| gwascentral | rs33984621 |
| openSNP | rs33984621 |
| 23andMe | rs33984621 |
| SNPshot | rs33984621 |
| SNPdbe | rs33984621 |
| MSV3d | rs33984621 |
| GWAS Ctlg | rs33984621 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33984621(A;A) rs33984621(G;G) rs33984621(T;T) |
| Alt | rs33984621(A;A) rs33984621(G;G) rs33984621(T;T) |
| Reference | Rs33984621(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN GODAVARI HEMOGLOBIN DENMARK HILL |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN GODAVARI HEMOGLOBIN DENMARK HILL |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227118C>A; NC_000016.9:g.227118C>G |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017219.2, RCV000017014.2, |
[PMID 5577460] Haemoglobin Rampa: Alpha 95 Pro--Ser.
[PMID 1917529] Two new cases of Hb Denmark Hill [alpha 95(G2)Pro----Ala] discovered in south-west France: electrophoretical and chromatographical considerations.
[PMID 5085669] Haemoglobin Denmark Hill 95 (G2) Pro-Ala, a variant with unusual electrophoretic and oxygen-binding properties.
[PMID 9494044] Hb Godavari [alpha 95(G2)Pro-->Thr]: a neutral amino acid substitution in the alpha 1 beta 2 interface that modifies the electrophoretic mobility of hemoglobin.
