rs17039192
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs17039192(C;T) |
| Make rs17039192(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 46297441 |
| Gene | EPAS1, LOC105374583 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17039192 |
| dbSNP (classic) | rs17039192 |
| ClinGen | rs17039192 |
| ebi | rs17039192 |
| HLI | rs17039192 |
| Exac | rs17039192 |
| Gnomad | rs17039192 |
| Varsome | rs17039192 |
| LitVar | rs17039192 |
| Map | rs17039192 |
| PheGenI | rs17039192 |
| Biobank | rs17039192 |
| 1000 genomes | rs17039192 |
| hgdp | rs17039192 |
| ensembl | rs17039192 |
| geneview | rs17039192 |
| scholar | rs17039192 |
| rs17039192 | |
| pharmgkb | rs17039192 |
| gwascentral | rs17039192 |
| openSNP | rs17039192 |
| 23andMe | rs17039192 |
| SNPshot | rs17039192 |
| SNPdbe | rs17039192 |
| MSV3d | rs17039192 |
| GWAS Ctlg | rs17039192 |
| GMAF | 0.04178 |
| Max Magnitude | 0 |
[PMID 22247019] A large-scale (3,000+ cases) replication study attempting to replicate a reported association between rs17039192 in the HIF-2a gene with knee osteoarthritis was unable to find any association whatsoever.[PMID 21217668] Replication studies in various ethnic populations do not support the association of the HIF-2alpha SNP rs17039192 with knee osteoarthritis.
| ClinVar | |
|---|---|
| Risk | rs17039192(T;T) |
| Alt | rs17039192(T;T) |
| Reference | Rs17039192(C;C) |
| Significance | Non-pathogenic |
| Disease | Familial erythrocytosis |
| Variation | info |
| Gene | EPAS1 |
| CLNDBN | Familial erythrocytosis |
| Reversed | 0 |
| HGVS | NC_000002.11:g.46524580C>T |
| CLNSRC | |
| CLNACC | RCV000377424.1, |
