rs104894006
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6 | Diabetes, late-onset noninsulin-dependent (predicted) |
| Make rs104894006(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 44149992 |
| Gene | GCK, LOC105375258 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894006 |
| dbSNP (classic) | rs104894006 |
| ClinGen | rs104894006 |
| ebi | rs104894006 |
| HLI | rs104894006 |
| Exac | rs104894006 |
| Gnomad | rs104894006 |
| Varsome | rs104894006 |
| LitVar | rs104894006 |
| Map | rs104894006 |
| PheGenI | rs104894006 |
| Biobank | rs104894006 |
| 1000 genomes | rs104894006 |
| hgdp | rs104894006 |
| ensembl | rs104894006 |
| geneview | rs104894006 |
| scholar | rs104894006 |
| rs104894006 | |
| pharmgkb | rs104894006 |
| gwascentral | rs104894006 |
| openSNP | rs104894006 |
| 23andMe | rs104894006 |
| SNPshot | rs104894006 |
| SNPdbe | rs104894006 |
| MSV3d | rs104894006 |
| GWAS Ctlg | rs104894006 |
| Max Magnitude | 6 |
aka c.556C>T (p.Arg186Ter or R186X)
This mutation is a very rare variant strongly associated with late-onset noninsulin-dependent diabetes (odds ratio ~68, CI: 14-328, p = 2x10e-8); see ClinVar and OMIM links.
| ClinVar | |
|---|---|
| Risk | rs104894006(A;A) rs104894006(T;T) |
| Alt | rs104894006(A;A) rs104894006(T;T) |
| Reference | Rs104894006(C;C) |
| Significance | Pathogenic |
| Disease | Diabetes mellitus |
| Variation | info |
| Gene | GCK |
| CLNDBN | Diabetes mellitus, noninsulin-dependent, late-onset |
| Reversed | 1 |
| HGVS | NC_000007.13:g.44189591G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017513.28, |
