{{Rsnum
|rsid=62638745
|Gene=EPOR
|Chromosome=19
|position=11378051
|Orientation=plus
|GMAF=0.003214
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=EPOR
}}{{omim
|id=133171
|rsnum=62638745
|variant=0003
}}{{ClinVar
|rsid=62638745
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=11488727
|CHROM=19
|GMAF=0.0032
|dbSNPBuildID=129
|SSR=0
|SAO=1
|VP=0x050060000000040116110100
|GENEINFO=EPOR:2057
|GENE_NAME=EPOR
|GENE_ID=2057
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.11488727T>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=133171.0003
|CLNSIG=5
|CLNCUI=C1851490; C0023440
|CLNDBN=Familial erythrocytosis, 1; Acute myeloid leukemia, M6 type
|Disease=Familial erythrocytosis; Acute myeloid leukemia
|CLNACC=RCV000018068.26; RCV000018069.26
|Tags=RV;PM;VLD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9968; 0.003214
|CLNDSDB=MedGen:OMIM:Orphanet; MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C1851490:133100:90042; C0023440:133180:318:14317002
|COMMON=1
}}