rs386833524
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs386833524(A;A) |
Make rs386833524(A;G) |
Reference | GRCh37.p10 37.5/138 |
Chromosome | 9 |
Position | 6592870 |
Gene | GLDC |
is a | snp |
is | mentioned by |
dbSNP | rs386833524 |
dbSNP (classic) | rs386833524 |
ClinGen | rs386833524 |
ebi | rs386833524 |
HLI | rs386833524 |
Exac | rs386833524 |
Gnomad | rs386833524 |
Varsome | rs386833524 |
LitVar | rs386833524 |
Map | rs386833524 |
PheGenI | rs386833524 |
Biobank | rs386833524 |
1000 genomes | rs386833524 |
hgdp | rs386833524 |
ensembl | rs386833524 |
geneview | rs386833524 |
scholar | rs386833524 |
rs386833524 | |
pharmgkb | rs386833524 |
gwascentral | rs386833524 |
openSNP | rs386833524 |
23andMe | rs386833524 |
SNPshot | rs386833524 |
SNPdbe | rs386833524 |
MSV3d | rs386833524 |
GWAS Ctlg | rs386833524 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833524(A;A) |
Alt | rs386833524(A;A) |
Reference | Rs386833524(G;G) |
Significance | Probable-Pathogenic |
Disease | Non-ketotic hyperglycinemia |
Variation | info |
Gene | GLDC |
CLNDBN | Non-ketotic hyperglycinemia |
Reversed | 1 |
HGVS | NC_000009.11:g.6592870C>T |
CLNSRC | ClinVar |
CLNACC | RCV000049452.1, |
[PMID 16601880] Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.