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

rs386833584

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833584(A;A)
Make rs386833584(A;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6610192
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833584
ebirs386833584
HLIrs386833584
Exacrs386833584
Varsomers386833584
Maprs386833584
PheGenIrs386833584
hapmaprs386833584
1000 genomesrs386833584
hgdprs386833584
ensemblrs386833584
gopubmedrs386833584
geneviewrs386833584
scholarrs386833584
googlers386833584
pharmgkbrs386833584
gwascentralrs386833584
openSNPrs386833584
23andMers386833584
23andMe allrs386833584
SNP Nexus

SNPshotrs386833584
SNPdbers386833584
MSV3drs386833584
GWAS Ctlgrs386833584
Max Magnitude0
ClinVar
Risk rs386833584(A,T;A,T)
Alt rs386833584(A,T;A,T)
Reference rs386833584(G;G)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6610192C>T
CLNSRC ClinVar
CLNACC RCV000049584.1,


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