rs119476044

Orientation

minus

Stabilized

minus

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

Make rs119476044(A;A)

Make rs119476044(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

231370598

Gene

EGLN1

is a	snp
is	mentioned by
dbSNP	rs119476044
dbSNP (classic)	rs119476044
ClinGen	rs119476044
ebi	rs119476044
HLI	rs119476044
Exac	rs119476044
Gnomad	rs119476044
Varsome	rs119476044
LitVar	rs119476044
Map	rs119476044
PheGenI	rs119476044
Biobank	rs119476044
1000 genomes	rs119476044
hgdp	rs119476044
ensembl	rs119476044
geneview	rs119476044
scholar	rs119476044
google	rs119476044
pharmgkb	rs119476044
gwascentral	rs119476044
openSNP	rs119476044
23andMe	rs119476044
SNPshot	rs119476044
SNPdbe	rs119476044
MSV3d	rs119476044
GWAS Ctlg	rs119476044

Max Magnitude

0

OMIM	606425
Desc
Variant	0002
Related	also

ClinVar
Risk	rs119476044(A;A)
Alt	rs119476044(A;A)
Reference	Rs119476044(G;G)
Significance	Pathogenic
Disease	Erythrocytosis
Variation	info
Gene	SPRTN EGLN1
CLNDBN	Erythrocytosis, familial, 3
Reversed	1
HGVS	NC_000001.10:g.231506344C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004604.2,