Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833593

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833593(A;A)
Make rs386833593(A;C)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6604661
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833593
ebirs386833593
HLIrs386833593
Exacrs386833593
Varsomers386833593
Maprs386833593
PheGenIrs386833593
hapmaprs386833593
1000 genomesrs386833593
hgdprs386833593
ensemblrs386833593
gopubmedrs386833593
geneviewrs386833593
scholarrs386833593
googlers386833593
pharmgkbrs386833593
gwascentralrs386833593
openSNPrs386833593
23andMers386833593
23andMe allrs386833593
SNP Nexus

SNPshotrs386833593
SNPdbers386833593
MSV3drs386833593
GWAS Ctlgrs386833593
Max Magnitude0
ClinVar
Risk rs386833593(A;A)
Alt rs386833593(A;A)
Reference rs386833593(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6604661G>T
CLNSRC ClinVar
CLNACC RCV000049519.1,


[PMID 12126939] Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia).