rs7754561
| Orientation | plus |
| Stabilized | plus |
| Make rs7754561(A;A) |
| Make rs7754561(A;G) |
| Make rs7754561(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 131891554 |
| Gene | ENPP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7754561 |
| dbSNP (classic) | rs7754561 |
| ClinGen | rs7754561 |
| ebi | rs7754561 |
| HLI | rs7754561 |
| Exac | rs7754561 |
| Gnomad | rs7754561 |
| Varsome | rs7754561 |
| LitVar | rs7754561 |
| Map | rs7754561 |
| PheGenI | rs7754561 |
| Biobank | rs7754561 |
| 1000 genomes | rs7754561 |
| hgdp | rs7754561 |
| ensembl | rs7754561 |
| geneview | rs7754561 |
| scholar | rs7754561 |
| rs7754561 | |
| pharmgkb | rs7754561 |
| gwascentral | rs7754561 |
| openSNP | rs7754561 |
| 23andMe | rs7754561 |
| SNPshot | rs7754561 |
| SNPdbe | rs7754561 |
| MSV3d | rs7754561 |
| GWAS Ctlg | rs7754561 |
| GMAF | 0.4894 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 19656007
] Genetic Variants of the ENPP1/PC-1 Gene Are Associated with Hypertriglyceridemia in Male 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 18304332] No evidence for association between BMI and 10 candidate genes at ages 4, 7 and 10 in a large UK sample of twins.
[PMID 18426862] Haplotype structure of the ENPP1 Gene and Nominal Association of the K121Q missense single nucleotide polymorphism with glycemic traits in the Framingham Heart Study.
[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 19593725] Association of maternally inherited GNAS alleles with African-American male birth weight.
[PMID 20981035] The ENPP1 K121Q polymorphism is not associated with type 2 diabetes or obesity in the Chinese Han population.
| ClinVar | |
|---|---|
| Risk | rs7754561(G;G) |
| Alt | rs7754561(G;G) |
| Reference | rs7754561(A;A) |
| Significance | Other |
| Disease | Obesity Arterial calcification of infancy Hypophosphatemic Rickets |
| Variation | info |
| Gene | ENPP1 |
| CLNDBN | Obesity Arterial calcification of infancy Hypophosphatemic Rickets, Recessive |
| Reversed | 0 |
| HGVS | NC_000006.11:g.132212694A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000022719.3, RCV000280683.1, RCV000372927.1, |
