rs12097901
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs12097901(C;C) |
| Make rs12097901(C;G) |
| Make rs12097901(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 231421509 |
| Gene | EGLN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12097901 |
| dbSNP (classic) | rs12097901 |
| ClinGen | rs12097901 |
| ebi | rs12097901 |
| HLI | rs12097901 |
| Exac | rs12097901 |
| Gnomad | rs12097901 |
| Varsome | rs12097901 |
| LitVar | rs12097901 |
| Map | rs12097901 |
| PheGenI | rs12097901 |
| Biobank | rs12097901 |
| 1000 genomes | rs12097901 |
| hgdp | rs12097901 |
| ensembl | rs12097901 |
| geneview | rs12097901 |
| scholar | rs12097901 |
| rs12097901 | |
| pharmgkb | rs12097901 |
| gwascentral | rs12097901 |
| openSNP | rs12097901 |
| 23andMe | rs12097901 |
| SNPshot | rs12097901 |
| SNPdbe | rs12097901 |
| MSV3d | rs12097901 |
| GWAS Ctlg | rs12097901 |
| Max Magnitude | 0 |
rs12097901, also known as c.380G>C or Cys127Ser, is a SNP in the EGLN1 egl-9 family hypoxia-inducible factor 1 gene. The EGLN1 gene encodes prolyl hydroxylase 2 (PHD2) protein.
Along with another SNP seen frequently primarily in Tibetans, rs186996510, this SNP is reported to have arisen ~8,000 years ago as an adaptation protecting Tibetans from hypoxia at the high altitudes they inhabit.[PMID 25129147
]
| ClinVar | |
|---|---|
| Risk | rs12097901(G;G) |
| Alt | rs12097901(G;G) |
| Reference | rs12097901(C;C) |
| Significance | Other |
| Disease | Hemoglobin Familial erythrocytosis |
| Variation | info |
| Gene | EGLN1 |
| CLNDBN | Hemoglobin, high altitude adaptation Familial erythrocytosis |
| Reversed | 0 |
| HGVS | NC_000001.10:g.231557255C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000144173.3, RCV000348869.1, |
[PMID 29625625] Association of EGLN1 genetic polymorphisms with SpO2 responses to acute hypobaric hypoxia in a Japanese cohort.
