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From SNPedia

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]

Risk rs186996510(C;C)
Alt rs186996510(C;C)
Reference rs186996510(G;G)
Significance Other
Disease Hemoglobin
Variation info
Gene EGLN1
CLNDBN Hemoglobin, high altitude adaptation
Reversed 0
HGVS NC_000001.10:g.231557623G>C
CLNACC RCV000144173.3,