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rs386833588

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833588(G;T)
Make rs386833588(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6605184
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833588
ebirs386833588
HLIrs386833588
Exacrs386833588
Varsomers386833588
Maprs386833588
PheGenIrs386833588
hapmaprs386833588
1000 genomesrs386833588
hgdprs386833588
ensemblrs386833588
gopubmedrs386833588
geneviewrs386833588
scholarrs386833588
googlers386833588
pharmgkbrs386833588
gwascentralrs386833588
openSNPrs386833588
23andMers386833588
23andMe allrs386833588
SNP Nexus

SNPshotrs386833588
SNPdbers386833588
MSV3drs386833588
GWAS Ctlgrs386833588
Max Magnitude0
ClinVar
Risk rs386833588(T;T)
Alt rs386833588(T;T)
Reference rs386833588(G;G)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6605184C>A
CLNSRC ClinVar
CLNACC RCV000049514.1,


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