rs150938052
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a Glutaric aciduria type I mutation |
| Make rs150938052(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 19 |
| Position | 12897767 |
| Gene | GCDH, SYCE2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs150938052 |
| dbSNP (classic) | rs150938052 |
| ClinGen | rs150938052 |
| ebi | rs150938052 |
| HLI | rs150938052 |
| Exac | rs150938052 |
| Gnomad | rs150938052 |
| Varsome | rs150938052 |
| LitVar | rs150938052 |
| Map | rs150938052 |
| PheGenI | rs150938052 |
| Biobank | rs150938052 |
| 1000 genomes | rs150938052 |
| hgdp | rs150938052 |
| ensembl | rs150938052 |
| geneview | rs150938052 |
| scholar | rs150938052 |
| rs150938052 | |
| pharmgkb | rs150938052 |
| gwascentral | rs150938052 |
| openSNP | rs150938052 |
| 23andMe | rs150938052 |
| SNPshot | rs150938052 |
| SNPdbe | rs150938052 |
| MSV3d | rs150938052 |
| GWAS Ctlg | rs150938052 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs150938052(T;T) |
| Alt | rs150938052(T;T) |
| Reference | Rs150938052(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Glutaric aciduria |
| Variation | info |
| Gene | GCDH |
| CLNDBN | Glutaric aciduria, type 1 |
| Reversed | 0 |
| HGVS | NC_000019.9:g.13008581C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000169204.1, |
