{{Rsnum
|rsid=80358193
|Chromosome=1
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=EGLN1
|position=231374041
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=EGLN1
}}{{omim
|id=606425
|rsnum=80358193
|variant=0001
}}{{ClinVar
|rsid=80358193
|Reversed=0
|FwdREF=G
|FwdALT=C
|REF=G
|ALT=C
|RSPOS=231374041
|CHROM=1
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000a05000002110100
|GENEINFO=EGLN1:54583
|GENE_NAME=EGLN1
|GENE_ID=54583
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.231374041G>C
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_022051.2:c.950C>G; 606425.0001
|CLNSIG=5
|CLNCUI=C1853286
|CLNDBN=Erythrocytosis, familial, 3
|Disease=Erythrocytosis
|CLNACC=RCV000004603.1
|Tags=PM;S3D;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1853286:609820:ORPHA247511
}}