{{Rsnum
|rsid=78290141
|Gene=PMM2
|Chromosome=16
|position=8847731
|Orientation=plus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene_s=PMM2
}}{{omim
|id=601785
|rsnum=78290141
|variant=0002
}}{{ClinVar
|rsid=78290141
|Reversed=0
|FwdREF=A
|FwdALT=G,T
|REF=A
|ALT=G,T
|RSPOS=8941588
|CHROM=16
|GMAF=0.0005
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050260000000000016110100
|GENEINFO=PMM2:5373
|GENE_NAME=PMM2
|GENE_ID=5373
|WGT=0
|VC=SNV
|CLNALLE=2
|CLNHGVS=NC_000016.9:g.8941588A>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=601785.0002
|CLNSIG=5
|CLNCUI=C0349653
|CLNDBN=Carbohydrate-deficient glycoprotein syndrome type I
|Disease=Carbohydrate-deficient glycoprotein syndrome type I
|CLNACC=RCV000008146.1
|Tags=PM;S3D;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591; .
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1110:NBK1332:C0349653:212065:79318:277893002
|COMMON=0
}}