rs63751282
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs63751282(C;C) |
| Make rs63751282(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173596 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63751282 |
| dbSNP (classic) | rs63751282 |
| ClinGen | rs63751282 |
| ebi | rs63751282 |
| HLI | rs63751282 |
| Exac | rs63751282 |
| Gnomad | rs63751282 |
| Varsome | rs63751282 |
| LitVar | rs63751282 |
| Map | rs63751282 |
| PheGenI | rs63751282 |
| Biobank | rs63751282 |
| 1000 genomes | rs63751282 |
| hgdp | rs63751282 |
| ensembl | rs63751282 |
| geneview | rs63751282 |
| scholar | rs63751282 |
| rs63751282 | |
| pharmgkb | rs63751282 |
| gwascentral | rs63751282 |
| openSNP | rs63751282 |
| 23andMe | rs63751282 |
| SNPshot | rs63751282 |
| SNPdbe | rs63751282 |
| MSV3d | rs63751282 |
| GWAS Ctlg | rs63751282 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs63751282(A;A) rs63751282(C;C) rs63751282(T;T) |
| Alt | rs63751282(A;A) rs63751282(C;C) rs63751282(T;T) |
| Reference | Rs63751282(G;G) |
| Significance | Untested |
| Disease | |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223595G>A; NC_000016.9:g.223595G>C; NC_000016.9:g.223595G>T |
| CLNSRC | |
| CLNACC | |
[PMID 5782115] Two new haemoglobin variants involving proline substitutions.
[PMID 11123] Structural and functional studies of haemoglobin Suresnes or alpha2 141 (HC3) Arg replaced by His beta2, a new high oxygen affinity mutant.
[PMID 640857] Hb Suresnes or alpha2 141(HC3) ArgyieldHis beta2 in a black family.
[PMID 7410435] Structural and functional studies of hemoglobin Suresnes (arg 141 alpha 2 replaced by His beta 2). Consequences of disrupting an oxygen-linked anion-binding site.
[PMID 701083] Hemoglobin Legnano (alpha2 141 (HC3) Arg replaced by Leu beta2): a new abnormal human hemoglobin with high oxygen affinity.
