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rs121918116

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 benign erythrocytosis, resulting in more red blood cells
(G;G) 0 normal


Make rs121918116(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position11378194
GeneEPOR
is asnp
is mentioned by
dbSNPrs121918116
ebirs121918116
HLIrs121918116
Exacrs121918116
Varsomers121918116
Maprs121918116
PheGenIrs121918116
hapmaprs121918116
1000 genomesrs121918116
hgdprs121918116
ensemblrs121918116
gopubmedrs121918116
geneviewrs121918116
scholarrs121918116
googlers121918116
pharmgkbrs121918116
gwascentralrs121918116
openSNPrs121918116
23andMers121918116
23andMe allrs121918116
SNP Nexus

SNPshotrs121918116
SNPdbers121918116
MSV3drs121918116
GWAS Ctlgrs121918116
Max Magnitude3

rs121918116, also known as c.1317G>A, p.Trp439Ter or W439X, is a rare mutation in the EPOR erythropoietin receptor gene on chromosome 19.

In a large Finnish family with autosomal dominant erythrocytosis (an increased number of circulating red blood cells), researchers found the rs121918116(G) mutation; the phenotype was mild in all individuals, and one individual (Eero Mantyranta) won 3 Olympic gold medals in cross-country skiing, presumably due in part to his body's ability to carry ~50% more oxygen than average.[PMID 8506290OA-icon.png]

OMIM133171
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918116(A;A)
Alt rs121918116(A;A)
Reference rs121918116(G;G)
Significance Other
Disease Familial erythrocytosis
Variation info
Gene EPOR
CLNDBN Familial erythrocytosis, 1
Reversed 1
HGVS NC_000019.9:g.11488870C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018065.28,