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rs137853037

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853037(A;G)
Make rs137853037(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position46380275
GeneEPAS1
is asnp
is mentioned by
dbSNPrs137853037
ebirs137853037
HLIrs137853037
Exacrs137853037
Varsomers137853037
Maprs137853037
PheGenIrs137853037
hapmaprs137853037
1000 genomesrs137853037
hgdprs137853037
ensemblrs137853037
gopubmedrs137853037
geneviewrs137853037
scholarrs137853037
googlers137853037
pharmgkbrs137853037
gwascentralrs137853037
openSNPrs137853037
23andMers137853037
23andMe allrs137853037
SNP Nexus

SNPshotrs137853037
SNPdbers137853037
MSV3drs137853037
GWAS Ctlgrs137853037
Max Magnitude0
OMIM603349
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137853037(G;G)
Alt rs137853037(G;G)
Reference rs137853037(A;A)
Significance Pathogenic
Disease Erythrocytosis
Variation info
Gene EPAS1
CLNDBN Erythrocytosis, familial, 4
Reversed 0
HGVS NC_000002.11:g.46607414A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006843.3,



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