{{Rsnum
|rsid=119455950
|Gene=COX4I2
|Chromosome=20
|position=31644800
|Orientation=plus
|GMAF=0.0009183
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=COX4I2
}}{{omim
|id=607976
|rsnum=119455950
|variant=0001
}}{{ClinVar
|rsid=119455950
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=30232603
|CHROM=20
|GMAF=0.0009
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000040416110100
|GENEINFO=COX4I2:84701
|GENE_NAME=COX4I2
|GENE_ID=84701
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000020.10:g.30232603G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=607976.0001
|CLNSIG=5
|CLNCUI=C2675184
|CLNDBN=Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
|Disease=Exocrine pancreatic insufficiency
|CLNACC=RCV000002774.1
|Tags=PM;S3D;VLD;HD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9991; 0.0009183
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C2675184:612714:199337
|COMMON=1
}}