rs776082304
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs776082304(C;T) |
| Make rs776082304(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 19 |
| Position | 12897859 |
| Gene | GCDH, SYCE2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs776082304 |
| dbSNP (classic) | rs776082304 |
| ClinGen | rs776082304 |
| ebi | rs776082304 |
| HLI | rs776082304 |
| Exac | rs776082304 |
| Gnomad | rs776082304 |
| Varsome | rs776082304 |
| LitVar | rs776082304 |
| Map | rs776082304 |
| PheGenI | rs776082304 |
| Biobank | rs776082304 |
| 1000 genomes | rs776082304 |
| hgdp | rs776082304 |
| ensembl | rs776082304 |
| geneview | rs776082304 |
| scholar | rs776082304 |
| rs776082304 | |
| pharmgkb | rs776082304 |
| gwascentral | rs776082304 |
| openSNP | rs776082304 |
| 23andMe | rs776082304 |
| SNPshot | rs776082304 |
| SNPdbe | rs776082304 |
| MSV3d | rs776082304 |
| GWAS Ctlg | rs776082304 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs776082304(A;A) rs776082304(T;T) |
| Alt | rs776082304(A;A) rs776082304(T;T) |
| Reference | Rs776082304(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Glutaric aciduria |
| Variation | info |
| Gene | GCDH |
| CLNDBN | Glutaric aciduria, type 1 |
| Reversed | 0 |
| HGVS | NC_000019.9:g.13008673C>A |
| CLNSRC | Counsyl |
| CLNACC | RCV000169467.1, |
