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rs119476045

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs119476045(A;G)
Make rs119476045(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position231370589
GeneEGLN1, SPRTN
is asnp
is mentioned by
dbSNPrs119476045
ebirs119476045
HLIrs119476045
Exacrs119476045
Varsomers119476045
Maprs119476045
PheGenIrs119476045
hapmaprs119476045
1000 genomesrs119476045
hgdprs119476045
ensemblrs119476045
gopubmedrs119476045
geneviewrs119476045
scholarrs119476045
googlers119476045
pharmgkbrs119476045
gwascentralrs119476045
openSNPrs119476045
23andMers119476045
23andMe allrs119476045
SNP Nexus

SNPshotrs119476045
SNPdbers119476045
MSV3drs119476045
GWAS Ctlgrs119476045
Max Magnitude0
OMIM606425
Desc
Variant0003
Relatedalso
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 RCV000004605.3,