rs121964980
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 8.8 | Glycine encephalopathy; Non-ketotic hyperglycinemia |
| (A;G) | 3 | Carrier of a glycine encephalopathy mutation |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh37 37.1/132 |
| Chromosome | 9 |
| Position | 6554768 |
| Gene | GLDC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121964980 |
| dbSNP (classic) | rs121964980 |
| ClinGen | rs121964980 |
| ebi | rs121964980 |
| HLI | rs121964980 |
| Exac | rs121964980 |
| Gnomad | rs121964980 |
| Varsome | rs121964980 |
| LitVar | rs121964980 |
| Map | rs121964980 |
| PheGenI | rs121964980 |
| Biobank | rs121964980 |
| 1000 genomes | rs121964980 |
| hgdp | rs121964980 |
| ensembl | rs121964980 |
| geneview | rs121964980 |
| scholar | rs121964980 |
| rs121964980 | |
| pharmgkb | rs121964980 |
| gwascentral | rs121964980 |
| openSNP | rs121964980 |
| 23andMe | rs121964980 |
| SNPshot | rs121964980 |
| SNPdbe | rs121964980 |
| MSV3d | rs121964980 |
| GWAS Ctlg | rs121964980 |
| Max Magnitude | 8.8 |
c.2216G>A (p.Arg739His)
23andMe calls this i5007987
| ClinVar | |
|---|---|
| Risk | Rs121964980(A;A) |
| Alt | Rs121964980(A;A) |
| Reference | Rs121964980(G;G) |
| Significance | Pathogenic |
| Disease | Non-ketotic hyperglycinemia |
| Variation | info |
| Gene | GLDC |
| CLNDBN | Non-ketotic hyperglycinemia |
| Reversed | 1 |
| HGVS | NC_000009.11:g.6554768C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000012770.24, |
