rs141437721
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | Carrier of a Glutaric aciduria type I mutation |
| Make rs141437721(G;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 19 |
| Position | 12897833 |
| Gene | GCDH, SYCE2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs141437721 |
| dbSNP (classic) | rs141437721 |
| ClinGen | rs141437721 |
| ebi | rs141437721 |
| HLI | rs141437721 |
| Exac | rs141437721 |
| Gnomad | rs141437721 |
| Varsome | rs141437721 |
| LitVar | rs141437721 |
| Map | rs141437721 |
| PheGenI | rs141437721 |
| Biobank | rs141437721 |
| 1000 genomes | rs141437721 |
| hgdp | rs141437721 |
| ensembl | rs141437721 |
| geneview | rs141437721 |
| scholar | rs141437721 |
| rs141437721 | |
| pharmgkb | rs141437721 |
| gwascentral | rs141437721 |
| openSNP | rs141437721 |
| 23andMe | rs141437721 |
| SNPshot | rs141437721 |
| SNPdbe | rs141437721 |
| MSV3d | rs141437721 |
| GWAS Ctlg | rs141437721 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs141437721(G;G) |
| Alt | rs141437721(G;G) |
| Reference | Rs141437721(A;A) |
| Significance | Pathogenic |
| Disease | Glutaric aciduria not provided |
| Variation | info |
| Gene | GCDH |
| CLNDBN | Glutaric aciduria, type 1 not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.13008647A>G |
| CLNSRC | |
| CLNACC | RCV000173982.1, RCV000414299.1, |
