rs1799816
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1799816(A;A) |
| Make rs1799816(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 19 |
| Position | 7125507 |
| Gene | INSR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1799816 |
| dbSNP (classic) | rs1799816 |
| ClinGen | rs1799816 |
| ebi | rs1799816 |
| HLI | rs1799816 |
| Exac | rs1799816 |
| Gnomad | rs1799816 |
| Varsome | rs1799816 |
| LitVar | rs1799816 |
| Map | rs1799816 |
| PheGenI | rs1799816 |
| Biobank | rs1799816 |
| 1000 genomes | rs1799816 |
| hgdp | rs1799816 |
| ensembl | rs1799816 |
| geneview | rs1799816 |
| scholar | rs1799816 |
| rs1799816 | |
| pharmgkb | rs1799816 |
| gwascentral | rs1799816 |
| openSNP | rs1799816 |
| 23andMe | rs1799816 |
| SNPshot | rs1799816 |
| SNPdbe | rs1799816 |
| MSV3d | rs1799816 |
| GWAS Ctlg | rs1799816 |
| GMAF | 0.003673 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1799816(A;A) |
| Alt | rs1799816(A;A) |
| Reference | Rs1799816(G;G) |
| Significance | Other |
| Disease | Diabetes mellitus type 2 not specified Insulin-resistant diabetes mellitus AND acanthosis nigricans Monogenic diabetes |
| Variation | info |
| Gene | INSR |
| CLNDBN | Diabetes mellitus type 2 not specified Insulin-resistant diabetes mellitus AND acanthosis nigricans Monogenic diabetes |
| Reversed | 1 |
| HGVS | NC_000019.9:g.7125518C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015822.28, RCV000175131.2, RCV000344820.1, RCV000445519.1, |
