rs121917830

Orientation

minus

Stabilized

minus

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

Make rs121917830(A;A)

Make rs121917830(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

11378195

Gene

EPOR

is a	snp
is	mentioned by
dbSNP	rs121917830
dbSNP (classic)	rs121917830
ClinGen	rs121917830
ebi	rs121917830
HLI	rs121917830
Exac	rs121917830
Gnomad	rs121917830
Varsome	rs121917830
LitVar	rs121917830
Map	rs121917830
PheGenI	rs121917830
Biobank	rs121917830
1000 genomes	rs121917830
hgdp	rs121917830
ensembl	rs121917830
geneview	rs121917830
scholar	rs121917830
google	rs121917830
pharmgkb	rs121917830
gwascentral	rs121917830
openSNP	rs121917830
23andMe	rs121917830
SNPshot	rs121917830
SNPdbe	rs121917830
MSV3d	rs121917830
GWAS Ctlg	rs121917830

Max Magnitude

0

ClinVar
Risk	rs121917830(A;A) rs121917830(T;T)
Alt	rs121917830(A;A) rs121917830(T;T)
Reference	Rs121917830(G;G)
Significance	Pathogenic
Disease	Familial erythrocytosis
Variation	info
Gene	EPOR
CLNDBN	Familial erythrocytosis, 1
Reversed	1
HGVS	NC_000019.9:g.11488871C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000258849.1,