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

rs386833579

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833579(G;T)
Make rs386833579(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6620197
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833579
ebirs386833579
HLIrs386833579
Exacrs386833579
Varsomers386833579
Maprs386833579
PheGenIrs386833579
hapmaprs386833579
1000 genomesrs386833579
hgdprs386833579
ensemblrs386833579
gopubmedrs386833579
geneviewrs386833579
scholarrs386833579
googlers386833579
pharmgkbrs386833579
gwascentralrs386833579
openSNPrs386833579
23andMers386833579
23andMe allrs386833579
SNP Nexus

SNPshotrs386833579
SNPdbers386833579
MSV3drs386833579
GWAS Ctlgrs386833579
Max Magnitude0
ClinVar
Risk rs386833579(T;T)
Alt rs386833579(T;T)
Reference rs386833579(G;G)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6620197C>A
CLNSRC ClinVar
CLNACC RCV000049506.1,


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