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rs80358193

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358193(C;C)
Make rs80358193(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position231374041
GeneEGLN1
is asnp
is mentioned by
dbSNPrs80358193
ebirs80358193
HLIrs80358193
Exacrs80358193
Varsomers80358193
Maprs80358193
PheGenIrs80358193
hapmaprs80358193
1000 genomesrs80358193
hgdprs80358193
ensemblrs80358193
gopubmedrs80358193
geneviewrs80358193
scholarrs80358193
googlers80358193
pharmgkbrs80358193
gwascentralrs80358193
openSNPrs80358193
23andMers80358193
23andMe allrs80358193
SNP Nexus

SNPshotrs80358193
SNPdbers80358193
MSV3drs80358193
GWAS Ctlgrs80358193
Max Magnitude0
OMIM606425
Desc
Variant0001
Relatedalso
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
CLNACC RCV000004603.2,