rs1799817
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1799817(C;T) |
| Make rs1799817(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 7125286 |
| Gene | INSR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1799817 |
| dbSNP (classic) | rs1799817 |
| ClinGen | rs1799817 |
| ebi | rs1799817 |
| HLI | rs1799817 |
| Exac | rs1799817 |
| Gnomad | rs1799817 |
| Varsome | rs1799817 |
| LitVar | rs1799817 |
| Map | rs1799817 |
| PheGenI | rs1799817 |
| Biobank | rs1799817 |
| 1000 genomes | rs1799817 |
| hgdp | rs1799817 |
| ensembl | rs1799817 |
| geneview | rs1799817 |
| scholar | rs1799817 |
| rs1799817 | |
| pharmgkb | rs1799817 |
| gwascentral | rs1799817 |
| openSNP | rs1799817 |
| 23andMe | rs1799817 |
| SNPshot | rs1799817 |
| SNPdbe | rs1799817 |
| MSV3d | rs1799817 |
| GWAS Ctlg | rs1799817 |
| GMAF | 0.2677 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 21637951] A common variant in the adiponectin gene and polycystic ovary syndrome risk
[PMID 21824047] Genetic polymorphisms associated with steroids metabolism and insulin action in polycystic ovary syndrome
[PMID 21645371
] Family association study between INSR gene polymorphisms and PCOS in Han Chinese
[PMID 17348446] Nested case-control study of energy regulation candidate gene single nucleotide polymorphisms and breast cancer.
[PMID 18212354] Genes in glucose metabolism and association with spina bifida.
[PMID 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
[PMID 19387820] Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome.
[PMID 22775283] Association of His1085His INSR gene polymorphism with type 2 diabetes in South Indians.
[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 | rs1799817(T;T) |
| Alt | rs1799817(T;T) |
| Reference | Rs1799817(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified Pineal hyperplasia AND diabetes mellitus syndrome Leprechaunism syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans |
| Variation | info |
| Gene | INSR |
| CLNDBN | not specified Pineal hyperplasia AND diabetes mellitus syndrome Leprechaunism syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans |
| Reversed | 1 |
| HGVS | NC_000019.9:g.7125297G>A |
| CLNSRC | |
| CLNACC | RCV000175129.1, RCV000278910.1, RCV000333104.1, RCV000373687.1, |
