rs80356613
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80356613(C;C) |
| Make rs80356613(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 17387935 |
| Gene | KCNJ11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356613 |
| dbSNP (classic) | rs80356613 |
| ClinGen | rs80356613 |
| ebi | rs80356613 |
| HLI | rs80356613 |
| Exac | rs80356613 |
| Gnomad | rs80356613 |
| Varsome | rs80356613 |
| LitVar | rs80356613 |
| Map | rs80356613 |
| PheGenI | rs80356613 |
| Biobank | rs80356613 |
| 1000 genomes | rs80356613 |
| hgdp | rs80356613 |
| ensembl | rs80356613 |
| geneview | rs80356613 |
| scholar | rs80356613 |
| rs80356613 | |
| pharmgkb | rs80356613 |
| gwascentral | rs80356613 |
| openSNP | rs80356613 |
| 23andMe | rs80356613 |
| SNPshot | rs80356613 |
| SNPdbe | rs80356613 |
| MSV3d | rs80356613 |
| GWAS Ctlg | rs80356613 |
| Merged from | Rs193929338, Rs193929339 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356613(A;A) rs80356613(C;C) |
| Alt | rs80356613(A;A) rs80356613(C;C) |
| Reference | Rs80356613(G;G) |
| Significance | Pathogenic |
| Disease | Transient neonatal diabetes mellitus 3 |
| Variation | info |
| Gene | KCNJ11 |
| CLNDBN | Transient neonatal diabetes mellitus 3 |
| Reversed | 1 |
| HGVS | NC_000011.9:g.17409482C>G; NC_000011.9:g.17409482C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000009219.3, RCV000009218.3, |
[PMID 15718250] Relapsing diabetes can result from moderately activating mutations in KCNJ11.
