rs186996510
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs186996510(C;C) |
Make rs186996510(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 231421877 |
Gene | EGLN1 |
is a | snp |
is | mentioned by |
dbSNP | rs186996510 |
dbSNP (classic) | rs186996510 |
ClinGen | rs186996510 |
ebi | rs186996510 |
HLI | rs186996510 |
Exac | rs186996510 |
Gnomad | rs186996510 |
Varsome | rs186996510 |
LitVar | rs186996510 |
Map | rs186996510 |
PheGenI | rs186996510 |
Biobank | rs186996510 |
1000 genomes | rs186996510 |
hgdp | rs186996510 |
ensembl | rs186996510 |
geneview | rs186996510 |
scholar | rs186996510 |
rs186996510 | |
pharmgkb | rs186996510 |
gwascentral | rs186996510 |
openSNP | rs186996510 |
23andMe | rs186996510 |
SNPshot | rs186996510 |
SNPdbe | rs186996510 |
MSV3d | rs186996510 |
GWAS Ctlg | rs186996510 |
Max Magnitude | 0 |
rs186996510, also known as c.12C>G or Asp4Glu, 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, rs12097901, 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 | rs186996510(C;C) |
Alt | rs186996510(C;C) |
Reference | Rs186996510(G;G) |
Significance | Probable-non-pathogenic |
Disease | Familial erythrocytosis Erythrocytosis |
Variation | info |
Gene | EGLN1 |
CLNDBN | Familial erythrocytosis Erythrocytosis, familial, 3 |
Reversed | 0 |
HGVS | NC_000001.10:g.231557623G>C |
CLNSRC | |
CLNACC | RCV000305391.1, RCV000473621.1, |