rs757110
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs757110(G;T) |
| Make rs757110(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 17396930 |
| Gene | ABCC8 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs757110 |
| dbSNP (classic) | rs757110 |
| ClinGen | rs757110 |
| ebi | rs757110 |
| HLI | rs757110 |
| Exac | rs757110 |
| Gnomad | rs757110 |
| Varsome | rs757110 |
| LitVar | rs757110 |
| Map | rs757110 |
| PheGenI | rs757110 |
| Biobank | rs757110 |
| 1000 genomes | rs757110 |
| hgdp | rs757110 |
| ensembl | rs757110 |
| geneview | rs757110 |
| scholar | rs757110 |
| rs757110 | |
| pharmgkb | rs757110 |
| gwascentral | rs757110 |
| openSNP | rs757110 |
| 23andMe | rs757110 |
| SNPshot | rs757110 |
| SNPdbe | rs757110 |
| MSV3d | rs757110 |
| GWAS Ctlg | rs757110 |
| GMAF | 0.2856 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 16642433
] Polymorphism in maternal LRP8 gene is associated with fetal growth.
[PMID 17903298] Genome-wide association with diabetes-related traits in the Framingham Heart Study.
[PMID 18599530] Ser1369Ala variant in sulfonylurea receptor gene ABCC8 is associated with antidiabetic efficacy of gliclazide in Chinese type 2 diabetic patients.
[PMID 19641380] Candidate gene polymorphisms for diabetes mellitus, cardiovascular disease and cancer are associated with longevity in Koreans.
| ClinVar | |
|---|---|
| Risk | rs757110(A;A) rs757110(T;T) |
| Alt | rs757110(A;A) rs757110(T;T) |
| Reference | Rs757110(G;G) |
| Significance | Other |
| Disease | not specified Hyperinsulinism Transient Neonatal Diabetes Permanent neonatal diabetes mellitus |
| Variation | info |
| Gene | ABCC8 |
| CLNDBN | not specified Hyperinsulinism, Dominant/Recessive Transient Neonatal Diabetes, Dominant Permanent neonatal diabetes mellitus |
| Reversed | 1 |
| HGVS | NC_000011.9:g.17418477C>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000144996.2, RCV000269263.1, RCV000326750.1, RCV000388290.1, |
[PMID 32660410] Association between ABCC8 Ala1369Ser Polymorphism (rs757110 T/G) and Type 2 Diabetes risk in an Iranian population: A Case-Control Study.
