rs137853037

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs137853037(A;G)

Make rs137853037(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

46380275

Gene

EPAS1

is a	snp
is	mentioned by
dbSNP	rs137853037
dbSNP (classic)	rs137853037
ClinGen	rs137853037
ebi	rs137853037
HLI	rs137853037
Exac	rs137853037
Gnomad	rs137853037
Varsome	rs137853037
LitVar	rs137853037
Map	rs137853037
PheGenI	rs137853037
Biobank	rs137853037
1000 genomes	rs137853037
hgdp	rs137853037
ensembl	rs137853037
geneview	rs137853037
scholar	rs137853037
google	rs137853037
pharmgkb	rs137853037
gwascentral	rs137853037
openSNP	rs137853037
23andMe	rs137853037
SNPshot	rs137853037
SNPdbe	rs137853037
MSV3d	rs137853037
GWAS Ctlg	rs137853037

Max Magnitude

0

OMIM	603349
Desc
Variant	0003
Related	also

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 UniProtKB (protein)
CLNACC	RCV000006843.3,

[PMID 23631762] Genotyping analysis and 18FDG uptake in breast cancer patients: a preliminary research