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rs12097901

From SNPedia

Orientationplus
Stabilizedplus
Make rs12097901(C;C)
Make rs12097901(C;G)
Make rs12097901(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position231421509
GeneEGLN1
is asnp
is mentioned by
dbSNPrs12097901
ebirs12097901
HLIrs12097901
Exacrs12097901
Varsomers12097901
Maprs12097901
PheGenIrs12097901
hapmaprs12097901
1000 genomesrs12097901
hgdprs12097901
ensemblrs12097901
gopubmedrs12097901
geneviewrs12097901
scholarrs12097901
googlers12097901
pharmgkbrs12097901
gwascentralrs12097901
openSNPrs12097901
23andMers12097901
23andMe allrs12097901
SNP Nexus

SNPshotrs12097901
SNPdbers12097901
MSV3drs12097901
GWAS Ctlgrs12097901
Max Magnitude
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 25129147OA-icon.png]

ClinVar
Risk rs12097901(G;G)
Alt rs12097901(G;G)
Reference rs12097901(C;C)
Significance Other
Disease Hemoglobin
Variation info
Gene EGLN1
CLNDBN Hemoglobin, high altitude adaptation
Reversed 0
HGVS NC_000001.10:g.231557255C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000144173.3,