{{Rsnum
|rsid=28933977
|Gene=ENPP1
|Chromosome=6
|position=131884939
|Orientation=plus
|GMAF=0.02433
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=ENPP1
}}{{omim
|desc=ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY
|id=173335
|rsnum=28933977
|variant=0003
}}{{ClinVar
|rsid=28933977
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=132206079
|CHROM=6
|GMAF=0.0243
|dbSNPBuildID=130
|SSR=0
|SAO=1
|VP=0x050368000000150516110100
|GENEINFO=ENPP1:5167
|GENE_NAME=ENPP1
|GENE_ID=5167
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000006.11:g.132206079C>T
|CLNORIGIN=1
|Tags=PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9757; 0.02433
|CLNACC=RCV000014555.1
|CLNDBN=Reclassified - variant of unknown significance
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=173335.0003
|COMMON=1
|Disease=Reclassified - variant of unknown significance
}}{{PMID Auto
|PMID=20137773
|Title=Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.
|OA=1
}}{{GET Evidence
|gene=ENPP1
|aa_change=Arg774Cys
|aa_change_short=R774C
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=undefined
|quality_scores=Array
|dbsnp_id=rs28933977
|overall_frequency_n=278
|overall_frequency_d=10758
|overall_frequency=0.0258412
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=2
|n_articles_annotated=2
|qualityscore_case_control=1
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=0
|qualityscore_treatability=0
|in_omim=Y
|pph2_score=0.746
|nblosum100=8
|autoscore=3
|webscore=N
|variant_evidence=0
|clinical_importance=0
|summary_short=Tentatively classified as benign. Initially reported as a recessive cause of infantile arterial calcification, but with no statistical significance. Other variants have been implicated as causal in these cases this variant. 5% allele frequency in caucasians contradicts this variant as having any highly pathogenic effect.
}}

{{on chip | 23andMe v4}}