{{Rsnum
|rsid=1044498
|Gene=ENPP1
|Chromosome=6
|position=131851228
|Orientation=plus
|GMAF=0.2925
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=ENPP1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 75.2 | 21.2 | 3.5
| HCB | 83.2 | 16.1 | 0.7
| JPT | 82.3 | 15.9 | 1.8
| YRI | 0.0 | 15.2 | 84.8
| ASW | 10.7 | 28.6 | 60.7
| CHB | 83.2 | 16.1 | 0.7
| CHD | 78.9 | 21.1 | 0.0
| GIH | 59.4 | 34.7 | 5.9
| LWK | 1.8 | 13.6 | 84.5
| MEX | 77.6 | 22.4 | 0.0
| MKK | 9.6 | 37.2 | 53.2
| TSI | 78.4 | 20.6 | 1.0
| HapMapRevision=28
}}

{{omim
|desc=INSULIN RESISTANCE, SUSCEPTIBILITY TO
|id=173335
|rsnum=1044498
|variant=0006
}}

[http://yannklimentidis.blogspot.com/2008/02/snps-that-may-have-made-human.html blog] ENPP1 harbors a mutation with a derived state known to protect against obesity and type II diabetes27 that is present in 90% of non-Africans but virtually absent in Africans

{{PMID|18426862|OA=1
}}  K121Q (rs1044498) The Q allele of ENPP1 K121Q is associated with hyperglycemia and insulin resistance in whites. increased fasting plasma glucose (FPG), A1C, fasting insulin, and insulin resistance by homeostasis model assessment (HOMA-IR; all P = 0.01-0.006). 

{{PMID Auto
|PMID=19399648
|Title=Possible role for ENPP1 polymorphism in obesity but not for INSIG2 and PLIN variants
}}

{{PMID Auto
|PMID=19656007
|Title=Genetic Variants of the ENPP1/PC-1 Gene Are Associated with Hypertriglyceridemia in Male Subjects
|OA=1
}}

{{PMID Auto
|PMID=20091022
|Title=The ENPP1 K121Q polymorphism determines individual susceptibility to the insulin-sensitising effect of lifestyle intervention
}}

{{PMID Auto
|PMID=21198320
|Title=Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 K173Q Polymorphism Is Associated with Diabetic Nephropathy in the Taiwanese Population
}}

{{PMID Auto
|PMID=21282363
|Title=The ENPP1 Q121 Variant Predicts Major Cardiovascular Events in High-Risk Individuals: Evidence for Interaction With Obesity in Diabetic Patients
|OA=1
}}

{{PMID Auto
|PMID=21565692
|Title=ENPP1/PC-1 Gene K121Q Polymorphism Is Associated with Obesity in European Adult Populations: Evidence from A Meta-Analysis Involving 24 324 Subjects
}}

{{ClinVar
|rsid=1044498
|Reversed=0
|FwdREF=A
|FwdALT=C
|REF=A
|ALT=C
|RSPOS=132172368
|CHROM=6
|GMAF=0.293
|dbSNPBuildID=86
|SSR=0
|SAO=1
|VP=0x05036800000015051f110100
|GENEINFO=ENPP1:5167
|GENE_NAME=ENPP1
|GENE_ID=5167
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000006.11:g.132172368A>C
|CLNORIGIN=1
|CLNSIG=255
|Tags=PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.7075; 0.2925
|CLNACC=RCV000014558.1; RCV000014559.1; RCV000033192.1
|CLNDBN=Insulin resistance, susceptibility to; Diabetes mellitus type 2; Obesity
|CLNDSDB=MedGen; MedGen:OMIM:SNOMED_CT; MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C1852091; C0011860:125853:44054006; C0028754:601665:71529:414916001
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=173335.0006
|COMMON=1
|Disease=Insulin resistance; Diabetes mellitus type 2; Obesity
}}

{{PMID|16207325|OA=1
}} Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population.

{{PMID|16865358}} Studies of the relationship between the ENPP1 K121Q polymorphism and type 2 diabetes, insulin resistance and obesity in 7,333 Danish white subjects.

{{PMID|17065359}} Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity.

{{PMID|17704904}} ENPP1 K121Q polymorphism and obesity, hyperglycaemia and type 2 diabetes in the prospective DESIR Study.

{{PMID|18184924}} Association of the distal region of the ectonucleotide pyrophosphatase/phosphodiesterase 1 gene with type 2 diabetes in an African-American population enriched for nephropathy.

{{PMID|18498634|OA=1
}} The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies.

{{PMID|18603647|OA=1
}} Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.

{{PMID|18678618|OA=1
}} Comprehensive association study of type 2 diabetes and related quantitative traits with 222 candidate genes.

{{PMID|18719658}} Gender differences in the relationship of ENPP1/PC-1 variants to obesity in a Turkish population.

{{PMID|18950909|OA=1
}} Association of the Q121 variant of ENPP1 gene with decreased kidney function among patients with type 2 diabetes.

{{PMID|19017751|OA=1
}} The association of ENPP1 K121Q with diabetes incidence is abolished by lifestyle modification in the diabetes prevention program.

{{PMID|19368707|OA=1
}} Contribution of type 2 diabetes associated loci in the Arabic population from Tunisia: a case-control study.

{{PMID|19593725|OA=1
}} Association of maternally inherited GNAS alleles with African-American male birth weight.

{{PMID|19643578|OA=1
}} Genetic risk factors for type 2 diabetes with pharmacologic intervention in African-American patients with schizophrenia or schizoaffective disorder.

{{PMID|20981035}} The ENPP1 K121Q polymorphism is not associated with type 2 diabetes or obesity in the Chinese Han population.

{{PMID|21283750|OA=1
}} Studies of the association of Arg72Pro of tumor suppressor protein p53 with type 2 diabetes in a combined analysis of 55,521 Europeans.

{{PMID|22391941}} Meta-analysis of association studies between five candidate genes and type 2 diabetes in Chinese Han population.

{{PMID Auto
|PMID=23036011
|Title=Shared ancestral susceptibility to colorectal cancer and other nutrition related diseases
|OA=1
}}

{{GET Evidence
|gene=ENPP1
|aa_change=Lys121Gln
|aa_change_short=K121Q
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1044498
|overall_frequency_n=41
|overall_frequency_d=124
|overall_frequency=0.330645
|n_genomes=24
|n_genomes_annotated=0
|n_haplomes=36
|n_articles=0
|n_articles_annotated=0
|in_omim=Y
|nblosum100=-2
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23111648
|Title=Evaluation of the ENPP1 and PLIN Single Nucleotide Polymorphisms With Type 2 Diabetes in a Taiwanese Population:  Evidence for Replication and Gene-Gene Interaction
}}

{{PMID Auto
|PMID=22749234
|Title=Contribution of common variants of ENPP1, IGF2BP2, KCNJ11, MLXIPL, PPARγ, SLC30A8 and TCF7L2 to the risk of type 2 diabetes in Lebanese and Tunisian Arabs
}}

{{PMID Auto
|PMID=23633196
|Title=Joint effect of insulin signaling genes on insulin secretion and glucose homeostasis
}}

{{PMID Auto
|PMID=24332798
|Title=Maternal-fetal metabolic gene-gene interactions and risk of neural tube defects
}}

{{PMID Auto
|PMID=23107043
|Title=Joint effect of insulin signaling genes on cardiovascular events and on whole body and endothelial insulin resistance.
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}