rs119476045

Orientation

minus

Stabilized

minus

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

Make rs119476045(A;G)

Make rs119476045(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

231370589

Gene

EGLN1

is a	snp
is	mentioned by
dbSNP	rs119476045
dbSNP (classic)	rs119476045
ClinGen	rs119476045
ebi	rs119476045
HLI	rs119476045
Exac	rs119476045
Gnomad	rs119476045
Varsome	rs119476045
LitVar	rs119476045
Map	rs119476045
PheGenI	rs119476045
Biobank	rs119476045
1000 genomes	rs119476045
hgdp	rs119476045
ensembl	rs119476045
geneview	rs119476045
scholar	rs119476045
google	rs119476045
pharmgkb	rs119476045
gwascentral	rs119476045
openSNP	rs119476045
23andMe	rs119476045
SNPshot	rs119476045
SNPdbe	rs119476045
MSV3d	rs119476045
GWAS Ctlg	rs119476045

Max Magnitude

0

OMIM	606425
Desc
Variant	0003
Related	also

ClinVar
Risk	rs119476045(G;G)
Alt	rs119476045(G;G)
Reference	Rs119476045(A;A)
Significance	Pathogenic
Disease	Erythrocytosis
Variation	info
Gene	SPRTN EGLN1
CLNDBN	Erythrocytosis, familial, 3
Reversed	1
HGVS	NC_000001.10:g.231506335T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004605.4,