rs2059806
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs2059806(A;A) |
| Make rs2059806(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 19 |
| Position | 7166365 |
| Gene | INSR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2059806 |
| dbSNP (classic) | rs2059806 |
| ClinGen | rs2059806 |
| ebi | rs2059806 |
| HLI | rs2059806 |
| Exac | rs2059806 |
| Gnomad | rs2059806 |
| Varsome | rs2059806 |
| LitVar | rs2059806 |
| Map | rs2059806 |
| PheGenI | rs2059806 |
| Biobank | rs2059806 |
| 1000 genomes | rs2059806 |
| hgdp | rs2059806 |
| ensembl | rs2059806 |
| geneview | rs2059806 |
| scholar | rs2059806 |
| rs2059806 | |
| pharmgkb | rs2059806 |
| gwascentral | rs2059806 |
| openSNP | rs2059806 |
| 23andMe | rs2059806 |
| SNPshot | rs2059806 |
| SNPdbe | rs2059806 |
| MSV3d | rs2059806 |
| GWAS Ctlg | rs2059806 |
| GMAF | 0.2342 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 21637951] A common variant in the adiponectin gene and polycystic ovary syndrome risk
[PMID 18603647
] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
[PMID 25927028
] An Association Study between INSR/NsiI (rs2059806) and INSR/PmlI (rs1799817) SNPs in Women with Polycystic Ovary Syndrome from West Azerbaijan Province, Iran
| ClinVar | |
|---|---|
| Risk | rs2059806(A;A) rs2059806(C;C) |
| Alt | rs2059806(A;A) rs2059806(C;C) |
| Reference | Rs2059806(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified Leprechaunism syndrome Pineal hyperplasia AND diabetes mellitus syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans |
| Variation | info |
| Gene | INSR |
| CLNDBN | not specified Leprechaunism syndrome Pineal hyperplasia AND diabetes mellitus syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans |
| Reversed | 1 |
| HGVS | NC_000019.9:g.7166376C>T |
| CLNSRC | |
| CLNACC | RCV000180111.1, RCV000290514.1, RCV000347847.1, RCV000393623.1, |
[PMID 28117222] The INSR rs2059806 single nucleotide polymorphism, a genetic risk factor for vascular and metabolic disease, associates with pre-eclampsia.
