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

rs386833535

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833535(G;T)
Make rs386833535(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6558680
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833535
ebirs386833535
HLIrs386833535
Exacrs386833535
Varsomers386833535
Maprs386833535
PheGenIrs386833535
hapmaprs386833535
1000 genomesrs386833535
hgdprs386833535
ensemblrs386833535
gopubmedrs386833535
geneviewrs386833535
scholarrs386833535
googlers386833535
pharmgkbrs386833535
gwascentralrs386833535
openSNPrs386833535
23andMers386833535
23andMe allrs386833535
SNP Nexus

SNPshotrs386833535
SNPdbers386833535
MSV3drs386833535
GWAS Ctlgrs386833535
Max Magnitude0
ClinVar
Risk rs386833535(T;T)
Alt rs386833535(T;T)
Reference rs386833535(G;G)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6558680C>A
CLNSRC ClinVar
CLNACC RCV000049463.1,


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