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rs186996510

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs186996510(C;C)
Make rs186996510(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position231421877
GeneEGLN1
is asnp
is mentioned by
dbSNPrs186996510
dbSNP (old)rs186996510
ClinGenrs186996510
ebirs186996510
HLIrs186996510
Exacrs186996510
Gnomadrs186996510
Varsomers186996510
Maprs186996510
PheGenIrs186996510
Biobankrs186996510
1000 genomesrs186996510
hgdprs186996510
ensemblrs186996510
gopubmedrs186996510
geneviewrs186996510
scholarrs186996510
googlers186996510
pharmgkbrs186996510
gwascentralrs186996510
openSNPrs186996510
23andMers186996510
23andMe allrs186996510
SNP Nexus

SNPshotrs186996510
SNPdbers186996510
MSV3drs186996510
GWAS Ctlgrs186996510
Max Magnitude0
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 25129147OA-icon.png]

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,