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rs137853036

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853036(G;T)
Make rs137853036(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position46380281
GeneEPAS1
is asnp
is mentioned by
dbSNPrs137853036
ebirs137853036
HLIrs137853036
Exacrs137853036
Varsomers137853036
Maprs137853036
PheGenIrs137853036
hapmaprs137853036
1000 genomesrs137853036
hgdprs137853036
ensemblrs137853036
gopubmedrs137853036
geneviewrs137853036
scholarrs137853036
googlers137853036
pharmgkbrs137853036
gwascentralrs137853036
openSNPrs137853036
23andMers137853036
23andMe allrs137853036
SNP Nexus

SNPshotrs137853036
SNPdbers137853036
MSV3drs137853036
GWAS Ctlgrs137853036
Max Magnitude0
OMIM603349
Desc
Variant0001
Relatedalso
OMIM603349
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853036(A,T;A,T)
Alt rs137853036(A,T;A,T)
Reference rs137853036(G;G)
Significance Pathogenic
Disease Erythrocytosis
Variation info
Gene EPAS1
CLNDBN Erythrocytosis, familial, 4
Reversed 0
HGVS NC_000002.11:g.46607420G>A; NC_000002.11:g.46607420G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006842.3, RCV000006841.2,



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