rs33914470
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33914470(C;C) |
| Make rs33914470(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177106 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33914470 |
| dbSNP (classic) | rs33914470 |
| ClinGen | rs33914470 |
| ebi | rs33914470 |
| HLI | rs33914470 |
| Exac | rs33914470 |
| Gnomad | rs33914470 |
| Varsome | rs33914470 |
| LitVar | rs33914470 |
| Map | rs33914470 |
| PheGenI | rs33914470 |
| Biobank | rs33914470 |
| 1000 genomes | rs33914470 |
| hgdp | rs33914470 |
| ensembl | rs33914470 |
| geneview | rs33914470 |
| scholar | rs33914470 |
| rs33914470 | |
| pharmgkb | rs33914470 |
| gwascentral | rs33914470 |
| openSNP | rs33914470 |
| 23andMe | rs33914470 |
| SNPshot | rs33914470 |
| SNPdbe | rs33914470 |
| MSV3d | rs33914470 |
| GWAS Ctlg | rs33914470 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33914470(C;C) rs33914470(T;T) |
| Alt | rs33914470(C;C) rs33914470(T;T) |
| Reference | Rs33914470(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN BROUSSAIS HEMOGLOBIN J (BROUSSAIS) HEMOGLOBIN TAGAWA I |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN BROUSSAIS HEMOGLOBIN J (BROUSSAIS) HEMOGLOBIN TAGAWA I |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227105G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016999.3, RCV000017000.3, RCV000017001.3, |
[PMID 128734] [Hemoglobin J. Broussais alpha-2 90 Lys leads to Asn beta-2A (FG2) discovered in a Martinique family. Comparison of several analytical technics].
[PMID 740406] Hb I alpha16 Lys leads to Glu and Hb Broussais alpha90 Lys leads to Asn in Australian families.
[PMID 4228361] [Study of an alpha J hemoglobin not previously described, in a French family].
[PMID 5452727] Hemoglobin Broussais: alpha-90 lys changed to asn.
[PMID 7803274] The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.
