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rs386833574

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833574(-;-)
Make rs386833574(-;C)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6645472
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833574
ebirs386833574
HLIrs386833574
Exacrs386833574
Varsomers386833574
Maprs386833574
PheGenIrs386833574
hapmaprs386833574
1000 genomesrs386833574
hgdprs386833574
ensemblrs386833574
gopubmedrs386833574
geneviewrs386833574
scholarrs386833574
googlers386833574
pharmgkbrs386833574
gwascentralrs386833574
openSNPrs386833574
23andMers386833574
23andMe allrs386833574
SNP Nexus

SNPshotrs386833574
SNPdbers386833574
MSV3drs386833574
GWAS Ctlgrs386833574
Max Magnitude0
ClinVar
Risk rs386833574(;)
Alt rs386833574(;)
Reference rs386833574(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6645472delG
CLNSRC ClinVar
CLNACC RCV000049501.1,


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