rs34492931
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs34492931(A;G) |
| Make rs34492931(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 176954 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34492931 |
| dbSNP (classic) | rs34492931 |
| ClinGen | rs34492931 |
| ebi | rs34492931 |
| HLI | rs34492931 |
| Exac | rs34492931 |
| Gnomad | rs34492931 |
| Varsome | rs34492931 |
| LitVar | rs34492931 |
| Map | rs34492931 |
| PheGenI | rs34492931 |
| Biobank | rs34492931 |
| 1000 genomes | rs34492931 |
| hgdp | rs34492931 |
| ensembl | rs34492931 |
| geneview | rs34492931 |
| scholar | rs34492931 |
| rs34492931 | |
| pharmgkb | rs34492931 |
| gwascentral | rs34492931 |
| openSNP | rs34492931 |
| 23andMe | rs34492931 |
| SNPshot | rs34492931 |
| SNPdbe | rs34492931 |
| MSV3d | rs34492931 |
| GWAS Ctlg | rs34492931 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34492931(G;G) |
| Alt | rs34492931(G;G) |
| Reference | Rs34492931(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN KARIYA |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN KARIYA |
| Reversed | 0 |
| HGVS | NC_000016.9:g.226953A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017079.3, |
[PMID 2500435] Structure-function relationships in hemoglobin Kariya, Lys-40(C5) alpha----Glu, with high oxygen affinity. Functional role of the salt bridge between Lys-40 alpha and the beta chain COOH terminus.
[PMID 6137414] Hemoglobin Kariya [alpha 40 (C5) Lys leads to Glu]: a new hemoglobin variant with an increased oxygen affinity.
[PMID 6480362] Hemoglobin Kariya or alpha 240(C5)Lys----Glu beta 2 in a Caucasian family from South Carolina.
