rs62638745

Orientation

minus

Stabilized

minus

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

Make rs62638745(A;G)

Make rs62638745(G;G)

Reference

GRCh38 38.1/142

Chromosome

19

Position

11378051

Gene

EPOR

is a	snp
is	mentioned by
dbSNP	rs62638745
dbSNP (classic)	rs62638745
ClinGen	rs62638745
ebi	rs62638745
HLI	rs62638745
Exac	rs62638745
Gnomad	rs62638745
Varsome	rs62638745
LitVar	rs62638745
Map	rs62638745
PheGenI	rs62638745
Biobank	rs62638745
1000 genomes	rs62638745
hgdp	rs62638745
ensembl	rs62638745
geneview	rs62638745
scholar	rs62638745
google	rs62638745
pharmgkb	rs62638745
gwascentral	rs62638745
openSNP	rs62638745
23andMe	rs62638745
SNPshot	rs62638745
SNPdbe	rs62638745
MSV3d	rs62638745
GWAS Ctlg	rs62638745

GMAF

0.003214

Max Magnitude

0

OMIM	133171
Desc
Variant	0003
Related	also

ClinVar
Risk	rs62638745(G;G)
Alt	rs62638745(G;G)
Reference	Rs62638745(A;A)
Significance	Other
Disease	Familial erythrocytosis Acute myeloid leukemia Familial erythrocytosis
Variation	info
Gene	EPOR
CLNDBN	Familial erythrocytosis, 1 Acute myeloid leukemia, M6 type Familial erythrocytosis
Reversed	1
HGVS	NC_000019.9:g.11488727T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018068.28, RCV000018069.27, RCV000337735.1,