rs137853233
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs137853233(A;G) |
| Make rs137853233(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 72057415 |
| Gene | HP, TXNL4B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137853233 |
| dbSNP (classic) | rs137853233 |
| ClinGen | rs137853233 |
| ebi | rs137853233 |
| HLI | rs137853233 |
| Exac | rs137853233 |
| Gnomad | rs137853233 |
| Varsome | rs137853233 |
| LitVar | rs137853233 |
| Map | rs137853233 |
| PheGenI | rs137853233 |
| Biobank | rs137853233 |
| 1000 genomes | rs137853233 |
| hgdp | rs137853233 |
| ensembl | rs137853233 |
| geneview | rs137853233 |
| scholar | rs137853233 |
| rs137853233 | |
| pharmgkb | rs137853233 |
| gwascentral | rs137853233 |
| openSNP | rs137853233 |
| 23andMe | rs137853233 |
| SNPshot | rs137853233 |
| SNPdbe | rs137853233 |
| MSV3d | rs137853233 |
| GWAS Ctlg | rs137853233 |
| Max Magnitude | 0 |
aka c.214A>G (p.Lys72Glu) in modern (ClinVar) numbering; however, historically this has been referred to as either Lys-53-Glu or Lys54Glu.
rs137853233(A) encodes the haptoglobin alpha-1 fast allele, which is the Lys amino acid; rs137853233(G) encodes the slow allele (Glu amino acid).
| ClinVar | |
|---|---|
| Risk | rs137853233(G;G) |
| Alt | rs137853233(G;G) |
| Reference | Rs137853233(A;A) |
| Significance | Non-pathogenic |
| Disease | HAPTOGLOBIN |
| Variation | info |
| Gene | HP |
| CLNDBN | HAPTOGLOBIN, ALPHA-1, FAST-SLOW POLYMORPHISM |
| Reversed | 0 |
| HGVS | NC_000016.9:g.72091314A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017244.2, |
