rs137853036

Orientation

plus

Stabilized

plus

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

Make rs137853036(G;T)

Make rs137853036(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

46380281

Gene

EPAS1

is a	snp
is	mentioned by
dbSNP	rs137853036
dbSNP (classic)	rs137853036
ClinGen	rs137853036
ebi	rs137853036
HLI	rs137853036
Exac	rs137853036
Gnomad	rs137853036
Varsome	rs137853036
LitVar	rs137853036
Map	rs137853036
PheGenI	rs137853036
Biobank	rs137853036
1000 genomes	rs137853036
hgdp	rs137853036
ensembl	rs137853036
geneview	rs137853036
scholar	rs137853036
google	rs137853036
pharmgkb	rs137853036
gwascentral	rs137853036
openSNP	rs137853036
23andMe	rs137853036
SNPshot	rs137853036
SNPdbe	rs137853036
MSV3d	rs137853036
GWAS Ctlg	rs137853036

Max Magnitude

0

OMIM	603349
Desc
Variant	0001
Related	also

OMIM	603349
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137853036(A;A) rs137853036(T;T)
Alt	rs137853036(A;A) rs137853036(T;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 UniProtKB (protein)
CLNACC	RCV000006842.3, RCV000006841.2,

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