rs1044498
| Orientation | plus |
| Stabilized | plus |
| Make rs1044498(A;A) |
| Make rs1044498(A;C) |
| Make rs1044498(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 131851228 |
| Gene | ENPP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1044498 |
| dbSNP (classic) | rs1044498 |
| ClinGen | rs1044498 |
| ebi | rs1044498 |
| HLI | rs1044498 |
| Exac | rs1044498 |
| Gnomad | rs1044498 |
| Varsome | rs1044498 |
| LitVar | rs1044498 |
| Map | rs1044498 |
| PheGenI | rs1044498 |
| Biobank | rs1044498 |
| 1000 genomes | rs1044498 |
| hgdp | rs1044498 |
| ensembl | rs1044498 |
| geneview | rs1044498 |
| scholar | rs1044498 |
| rs1044498 | |
| pharmgkb | rs1044498 |
| gwascentral | rs1044498 |
| openSNP | rs1044498 |
| 23andMe | rs1044498 |
| SNPshot | rs1044498 |
| SNPdbe | rs1044498 |
| MSV3d | rs1044498 |
| GWAS Ctlg | rs1044498 |
| GMAF | 0.2925 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
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
] 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 19399648] Possible role for ENPP1 polymorphism in obesity but not for INSIG2 and PLIN variants
[PMID 19656007] Genetic Variants of the ENPP1/PC-1 Gene Are Associated with Hypertriglyceridemia in Male Subjects
[PMID 20091022] The ENPP1 K121Q polymorphism determines individual susceptibility to the insulin-sensitising effect of lifestyle intervention
[PMID 21198320] Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 K173Q Polymorphism Is Associated with Diabetic Nephropathy in the Taiwanese Population
[PMID 21282363] The ENPP1 Q121 Variant Predicts Major Cardiovascular Events in High-Risk Individuals: Evidence for Interaction With Obesity in Diabetic Patients
[PMID 21565692] ENPP1/PC-1 Gene K121Q Polymorphism Is Associated with Obesity in European Adult Populations: Evidence from A Meta-Analysis Involving 24 324 Subjects
| ClinVar | |
|---|---|
| Risk | rs1044498(C;C) |
| Alt | rs1044498(C;C) |
| Reference | rs1044498(A;A) |
| Significance | Other |
| Disease | Insulin resistance Diabetes mellitus type 2 Obesity not specified Hypophosphatemic Rickets Arterial calcification of infancy |
| Variation | info |
| Gene | ENPP1 |
| CLNDBN | Insulin resistance, susceptibility to Diabetes mellitus type 2 Obesity not specified Hypophosphatemic Rickets, Recessive Arterial calcification of infancy |
| Reversed | 0 |
| HGVS | NC_000006.11:g.132172368A>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014558.3, RCV000014559.3, RCV000033192.3, RCV000178259.1, RCV000265863.1, RCV000355961.1, |
[PMID 16207325] 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] The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies.
[PMID 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
[PMID 18678618] 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] Association of the Q121 variant of ENPP1 gene with decreased kidney function among patients with type 2 diabetes.
[PMID 19017751] The association of ENPP1 K121Q with diabetes incidence is abolished by lifestyle modification in the diabetes prevention program.
[PMID 19368707] Contribution of type 2 diabetes associated loci in the Arabic population from Tunisia: a case-control study.
[PMID 19593725] Association of maternally inherited GNAS alleles with African-American male birth weight.
[PMID 19643578] 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] 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 23036011] Shared ancestral susceptibility to colorectal cancer and other nutrition related diseases
[PMID 23111648] 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 22749234] 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 23633196] Joint effect of insulin signaling genes on insulin secretion and glucose homeostasis
[PMID 24332798] Maternal-fetal metabolic gene-gene interactions and risk of neural tube defects
[PMID 23107043] Joint effect of insulin signaling genes on cardiovascular events and on whole body and endothelial insulin resistance.
[PMID 25794151] Association between the ENPP1 K121Q Polymorphism and Risk of Diabetic Kidney Disease: A Systematic Review and Meta-Analysis
[PMID 25463099] Joint effect of insulin signaling genes on all-cause mortality
[PMID 27238374] The ENPP1 K121Q polymorphism is associated with type 2 diabetes and related metabolic phenotypes in a Taiwanese population.
[PMID 30444569] Genetic determinants of steatosis and fibrosis progression in pediatric non-alcoholic fatty liver disease.
