{{Rsnum
|rsid=121912682
|Gene=AMPD1
|Chromosome=1
|position=114677465
|Orientation=minus
|GMAF=0.0009183
|Gene_s=AMPD1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{omim
|id=102770
|rsnum=121912682
|variant=0003
}}{{ClinVar
|rsid=121912682
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=114677465
|CHROM=1
|GMAF=0.0009
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000a05000016110100
|GENEINFO=AMPD1:270
|GENE_NAME=AMPD1
|GENE_ID=270
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.114677465C>T
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_000036.2:c.1373G>A; 102770.0003
|CLNSIG=5
|CLNCUI=C0268123
|CLNDBN=Muscle AMP deaminase deficiency
|Disease=Muscle AMP deaminase deficiency
|CLNACC=RCV000019935.28
|Tags=RV;PM;S3D;NSM;REF;ASP;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9991; 0.0009183
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0268123:615511:ORPHA45:9105005
|COMMON=1
}}