rs63750950
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs63750950(C;C) |
| Make rs63750950(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177361 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750950 |
| dbSNP (classic) | rs63750950 |
| ClinGen | rs63750950 |
| ebi | rs63750950 |
| HLI | rs63750950 |
| Exac | rs63750950 |
| Gnomad | rs63750950 |
| Varsome | rs63750950 |
| LitVar | rs63750950 |
| Map | rs63750950 |
| PheGenI | rs63750950 |
| Biobank | rs63750950 |
| 1000 genomes | rs63750950 |
| hgdp | rs63750950 |
| ensembl | rs63750950 |
| geneview | rs63750950 |
| scholar | rs63750950 |
| rs63750950 | |
| pharmgkb | rs63750950 |
| gwascentral | rs63750950 |
| openSNP | rs63750950 |
| 23andMe | rs63750950 |
| SNPshot | rs63750950 |
| SNPdbe | rs63750950 |
| MSV3d | rs63750950 |
| GWAS Ctlg | rs63750950 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs63750950(A;A) rs63750950(C;C) rs63750950(T;T) |
| Alt | rs63750950(A;A) rs63750950(C;C) rs63750950(T;T) |
| Reference | Rs63750950(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN SASSARI |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN SASSARI |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227360G>C |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000017148.2, |
[PMID 13856] Hemoglobin Tarrant: alpha126(H9) Asp leads to Asn. A new hemoglobin variant in the alpha1beta1 contact region showing high oxygen affinity and reduced cooperativity.
[PMID 7019159] Heterozygosity and homozygosity for the high oxygen affinity hemoglobin Tarrant or alpha 126 (H9) Asp replaced by Asn in two Mexican families.
[PMID 3667323] Hb Sassari or alpha (2)126(H9)Asp---His beta 2 observed in a family from Northern Sardinia.
[PMID 9494049] Hb Sassari [alpha 126(H9)Asp-->His] results from a GAC-->CAC mutation in the alpha 1-globin gene.
