rs33949106
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs33949106(A;C) |
| Make rs33949106(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177003 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33949106 |
| dbSNP (classic) | rs33949106 |
| ClinGen | rs33949106 |
| ebi | rs33949106 |
| HLI | rs33949106 |
| Exac | rs33949106 |
| Gnomad | rs33949106 |
| Varsome | rs33949106 |
| LitVar | rs33949106 |
| Map | rs33949106 |
| PheGenI | rs33949106 |
| Biobank | rs33949106 |
| 1000 genomes | rs33949106 |
| hgdp | rs33949106 |
| ensembl | rs33949106 |
| geneview | rs33949106 |
| scholar | rs33949106 |
| rs33949106 | |
| pharmgkb | rs33949106 |
| gwascentral | rs33949106 |
| openSNP | rs33949106 |
| 23andMe | rs33949106 |
| SNPshot | rs33949106 |
| SNPdbe | rs33949106 |
| MSV3d | rs33949106 |
| GWAS Ctlg | rs33949106 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33949106(C;C) rs33949106(G;G) |
| Alt | rs33949106(C;C) rs33949106(G;G) |
| Reference | Rs33949106(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN THAILAND HEMOGLOBIN PORT HURON |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN THAILAND HEMOGLOBIN PORT HURON |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227002A>C; NC_000016.9:g.227002A>G |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017166.2, RCV000017185.2, |
[PMID 604316] Hemoglobin Thailand [alpha 56 (E 5) Lys leads to Thr]: a new abnormal human hemoglobin.
[PMID 1802882] Hb Port Huron [alpha 56 (E5)Lys----ARG]: a new alpha chain variant.
