{{Rsnum
|rsid=121908248
|Chromosome=6
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=ENPP1
|position=131860388
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ENPP1
}}{{omim
|id=173335
|rsnum=121908248
|variant=0011
}}{{ClinVar
|rsid=121908248
|Reversed=0
|FwdREF=G
|FwdALT=T
|REF=G
|ALT=T
|RSPOS=132181528
|CHROM=6
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=ENPP1:5167
|GENE_NAME=ENPP1
|GENE_ID=5167
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000006.11:g.132181528G>T
|CLNSRC=OMIM Allelic Variant; UniProtKB (variants)
|CLNORIGIN=1
|CLNSRCID=173335.0011; VAR_063719
|CLNSIG=5
|CLNCUI=C2750078; C1859727
|CLNDBN=Hypophosphatemic rickets, autosomal recessive, 2; Arterial calcification of infancy
|Disease=Hypophosphatemic rickets; Arterial calcification of infancy
|CLNACC=RCV000014563.19; RCV000014564.18
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C2750078:613312:289176; C1859727:208000:51608
}}{{PMID|20137773|OA=1
}} Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.