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rs386833585

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833585(C;T)
Make rs386833585(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6606599
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833585
ebirs386833585
HLIrs386833585
Exacrs386833585
Varsomers386833585
Maprs386833585
PheGenIrs386833585
hapmaprs386833585
1000 genomesrs386833585
hgdprs386833585
ensemblrs386833585
gopubmedrs386833585
geneviewrs386833585
scholarrs386833585
googlers386833585
pharmgkbrs386833585
gwascentralrs386833585
openSNPrs386833585
23andMers386833585
23andMe allrs386833585
SNP Nexus

SNPshotrs386833585
SNPdbers386833585
MSV3drs386833585
GWAS Ctlgrs386833585
Max Magnitude0
ClinVar
Risk rs386833585(G,T;G,T)
Alt rs386833585(G,T;G,T)
Reference rs386833585(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6606599G>A
CLNSRC ClinVar
CLNACC RCV000049511.1,


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