rs80358193

Orientation

plus

Stabilized

plus

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

Make rs80358193(C;C)

Make rs80358193(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

231374041

Gene

EGLN1

is a	snp
is	mentioned by
dbSNP	rs80358193
dbSNP (classic)	rs80358193
ClinGen	rs80358193
ebi	rs80358193
HLI	rs80358193
Exac	rs80358193
Gnomad	rs80358193
Varsome	rs80358193
LitVar	rs80358193
Map	rs80358193
PheGenI	rs80358193
Biobank	rs80358193
1000 genomes	rs80358193
hgdp	rs80358193
ensembl	rs80358193
geneview	rs80358193
scholar	rs80358193
google	rs80358193
pharmgkb	rs80358193
gwascentral	rs80358193
openSNP	rs80358193
23andMe	rs80358193
SNPshot	rs80358193
SNPdbe	rs80358193
MSV3d	rs80358193
GWAS Ctlg	rs80358193

Max Magnitude

0

OMIM	606425
Desc
Variant	0001
Related	also

ClinVar
Risk	rs80358193(C;C)
Alt	rs80358193(C;C)
Reference	Rs80358193(G;G)
Significance	Pathogenic
Disease	Erythrocytosis
Variation	info
Gene	EGLN1
CLNDBN	Erythrocytosis, familial, 3
Reversed	0
HGVS	NC_000001.10:g.231509787G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004603.2,