rs11085825
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 1 | most likely benign polymorphism |
| (T;T) | 1 | most likely benign polymorphism |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 19 |
| Position | 12896644 |
| Gene | GCDH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11085825 |
| dbSNP (classic) | rs11085825 |
| ClinGen | rs11085825 |
| ebi | rs11085825 |
| HLI | rs11085825 |
| Exac | rs11085825 |
| Gnomad | rs11085825 |
| Varsome | rs11085825 |
| LitVar | rs11085825 |
| Map | rs11085825 |
| PheGenI | rs11085825 |
| Biobank | rs11085825 |
| 1000 genomes | rs11085825 |
| hgdp | rs11085825 |
| ensembl | rs11085825 |
| geneview | rs11085825 |
| scholar | rs11085825 |
| rs11085825 | |
| pharmgkb | rs11085825 |
| gwascentral | rs11085825 |
| openSNP | rs11085825 |
| 23andMe | rs11085825 |
| SNPshot | rs11085825 |
| SNPdbe | rs11085825 |
| MSV3d | rs11085825 |
| GWAS Ctlg | rs11085825 |
| Max Magnitude | 1 |
aka c.852+223C>T
ClinVar indicates "likely pathogenic" (for glutaric aciduria, type 1) according to a single submitter, but with a population frequency as high as 10% for the minor allele homozygote, this seems very unlikely to be correct and instead this variant is most likely not pathogenic.
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs11085825(T;T) |
| Alt | Rs11085825(T;T) |
| Reference | Rs11085825(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Glutaric aciduria |
| Variation | info |
| Gene | GCDH |
| CLNDBN | Glutaric aciduria, type 1 |
| Reversed | 0 |
| HGVS | NC_000019.9:g.13007458C>T |
| CLNSRC | |
| CLNACC | RCV000207433.1, |
