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

rs386833521

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833521(C;T)
Make rs386833521(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6592982
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833521
ebirs386833521
HLIrs386833521
Exacrs386833521
Varsomers386833521
Maprs386833521
PheGenIrs386833521
hapmaprs386833521
1000 genomesrs386833521
hgdprs386833521
ensemblrs386833521
gopubmedrs386833521
geneviewrs386833521
scholarrs386833521
googlers386833521
pharmgkbrs386833521
gwascentralrs386833521
openSNPrs386833521
23andMers386833521
23andMe allrs386833521
SNP Nexus

SNPshotrs386833521
SNPdbers386833521
MSV3drs386833521
GWAS Ctlgrs386833521
Max Magnitude0
ClinVar
Risk rs386833521(T;T)
Alt rs386833521(T;T)
Reference rs386833521(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6592982G>A
CLNSRC ClinVar
CLNACC RCV000049449.1,


[PMID 16601880] Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.