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rs119476044

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119476044(A;A)
Make rs119476044(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position231370598
GeneEGLN1, SPRTN
is asnp
is mentioned by
dbSNPrs119476044
ebirs119476044
HLIrs119476044
Exacrs119476044
Varsomers119476044
Maprs119476044
PheGenIrs119476044
hapmaprs119476044
1000 genomesrs119476044
hgdprs119476044
ensemblrs119476044
gopubmedrs119476044
geneviewrs119476044
scholarrs119476044
googlers119476044
pharmgkbrs119476044
gwascentralrs119476044
openSNPrs119476044
23andMers119476044
23andMe allrs119476044
SNP Nexus

SNPshotrs119476044
SNPdbers119476044
MSV3drs119476044
GWAS Ctlgrs119476044
Max Magnitude0
OMIM606425
Desc
Variant0002
Relatedalso
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
CLNACC RCV000004604.2,