rs587776825
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;C) | 3.6 | Maturity onset of diabetes of the young (type 3) |
| (D;D) | 0 | common genotype |
| Make rs587776825(C;C) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 12 |
| Position | 120994322 |
| Gene | HNF1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587776825 |
| dbSNP (classic) | rs587776825 |
| ClinGen | rs587776825 |
| ebi | rs587776825 |
| HLI | rs587776825 |
| Exac | rs587776825 |
| Gnomad | rs587776825 |
| Varsome | rs587776825 |
| LitVar | rs587776825 |
| Map | rs587776825 |
| PheGenI | rs587776825 |
| Biobank | rs587776825 |
| 1000 genomes | rs587776825 |
| hgdp | rs587776825 |
| ensembl | rs587776825 |
| geneview | rs587776825 |
| scholar | rs587776825 |
| rs587776825 | |
| pharmgkb | rs587776825 |
| gwascentral | rs587776825 |
| openSNP | rs587776825 |
| 23andMe | rs587776825 |
| SNPshot | rs587776825 |
| SNPdbe | rs587776825 |
| MSV3d | rs587776825 |
| GWAS Ctlg | rs587776825 |
| Max Magnitude | 3.6 |
aka c.872dupC
| ClinVar | |
|---|---|
| Risk | rs587776825(C;C) |
| Alt | rs587776825(C;C) |
| Reference | Rs587776825(-;-) |
| Significance | Pathogenic |
| Disease | Maturity-onset diabetes of the young Clear cell carcinoma of kidney Diabetes mellitus Hepatic adenomas Diabetes mellitus type 1 not provided |
| Variation | info |
| Gene | HNF1A |
| CLNDBN | Maturity-onset diabetes of the young, type 3 Clear cell carcinoma of kidney Diabetes mellitus, insulin-dependent, 20 Hepatic adenomas, familial Diabetes mellitus type 1 not provided |
| Reversed | 0 |
| HGVS | NC_000012.11:g.121432125dupC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016062.26, RCV000016063.23, RCV000016064.23, RCV000022617.5, RCV000117225.1, RCV000490055.1, |
