{{Rsnum
|rsid=119476044
|Chromosome=1
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=EGLN1
|position=231370598
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=EGLN1,SPRTN
}}{{omim
|id=606425
|rsnum=119476044
|variant=0002
}}{{ClinVar
|rsid=119476044
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=231370598
|CHROM=1
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x0502600c0a05000002110100
|GENEINFO=SPRTN:83932; EGLN1:54583
|GENE_NAME=SPRTN; EGLN1
|GENE_ID=83932; 54583
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.231370598C>T
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_022051.2:c.1112G>A; 606425.0002
|CLNSIG=5
|CLNCUI=C1853286
|CLNDBN=Erythrocytosis, familial, 3
|Disease=Erythrocytosis
|CLNACC=RCV000004604.1
|Tags=RV;PM;S3D;NSM;REF;INT;R3;ASP;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1853286:609820:ORPHA247511
}}