rs52836744
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| (G;G) | 0 | common in clinvar |
| Make rs52836744(A;A) |
| Make rs52836744(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 7267825 |
| Gene | INSR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs52836744 |
| dbSNP (classic) | rs52836744 |
| ClinGen | rs52836744 |
| ebi | rs52836744 |
| HLI | rs52836744 |
| Exac | rs52836744 |
| Gnomad | rs52836744 |
| Varsome | rs52836744 |
| LitVar | rs52836744 |
| Map | rs52836744 |
| PheGenI | rs52836744 |
| Biobank | rs52836744 |
| 1000 genomes | rs52836744 |
| hgdp | rs52836744 |
| ensembl | rs52836744 |
| geneview | rs52836744 |
| scholar | rs52836744 |
| rs52836744 | |
| pharmgkb | rs52836744 |
| gwascentral | rs52836744 |
| openSNP | rs52836744 |
| 23andMe | rs52836744 |
| SNPshot | rs52836744 |
| SNPdbe | rs52836744 |
| MSV3d | rs52836744 |
| GWAS Ctlg | rs52836744 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs52836744(A;A) |
| Alt | rs52836744(A;A) |
| Reference | Rs52836744(G;G) |
| Significance | Pathogenic |
| Disease | Leprechaunism syndrome |
| Variation | info |
| Gene | INSR |
| CLNDBN | Leprechaunism syndrome |
| Reversed | 1 |
| HGVS | NC_000019.9:g.7267836C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015814.29, |
