rs33961916
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33961916(A;A) |
| Make rs33961916(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 176735 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33961916 |
| dbSNP (classic) | rs33961916 |
| ClinGen | rs33961916 |
| ebi | rs33961916 |
| HLI | rs33961916 |
| Exac | rs33961916 |
| Gnomad | rs33961916 |
| Varsome | rs33961916 |
| LitVar | rs33961916 |
| Map | rs33961916 |
| PheGenI | rs33961916 |
| Biobank | rs33961916 |
| 1000 genomes | rs33961916 |
| hgdp | rs33961916 |
| ensembl | rs33961916 |
| geneview | rs33961916 |
| scholar | rs33961916 |
| rs33961916 | |
| pharmgkb | rs33961916 |
| gwascentral | rs33961916 |
| openSNP | rs33961916 |
| 23andMe | rs33961916 |
| SNPshot | rs33961916 |
| SNPdbe | rs33961916 |
| MSV3d | rs33961916 |
| GWAS Ctlg | rs33961916 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33961916(A;A) rs33961916(C;C) rs33961916(T;T) |
| Alt | rs33961916(A;A) rs33961916(C;C) rs33961916(T;T) |
| Reference | Rs33961916(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN DUNN HEMOGLOBIN WOODVILLE |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN DUNN HEMOGLOBIN WOODVILLE |
| Reversed | 0 |
| HGVS | NC_000016.9:g.226734G>A; NC_000016.9:g.226734G>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017016.2, RCV000017180.2, |
[PMID 478975] Hemoglobin Dunn: alpha 6 (A4) aspartic acid replaced by asparagine.
[PMID 3354560] Asymptomatic association of hemoglobin Dunn (alpha 6[A4]Asp----Asn) and hemoglobin O-Arab (beta 121[GH4]Glu----Lys) in a Moroccan man.
[PMID 6668192] Two rare alpha chain variants, Hb Dunn or alpha 26(A4)Asp replaced by Asn beta 2 and Hb G-Pest or alpha 274(EF3)Asp replaced by Asn beta 2, observed in an Indian and a black newborn.
[PMID 7435503] Oxygen affinity and stability of hemoglobin Dunn alpha 6(A4)Asp replaced by Asn): use of isoelectric focusing in recognition of a new abnormal hemoglobin.
[PMID 3754246] Hemoglobin Woodville: alpha (2)6(A4) aspartic acid----tyrosine.
