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rs386833525

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833525(C;C)
Make rs386833525(C;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6592224
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833525
ebirs386833525
HLIrs386833525
Exacrs386833525
Varsomers386833525
Maprs386833525
PheGenIrs386833525
hapmaprs386833525
1000 genomesrs386833525
hgdprs386833525
ensemblrs386833525
gopubmedrs386833525
geneviewrs386833525
scholarrs386833525
googlers386833525
pharmgkbrs386833525
gwascentralrs386833525
openSNPrs386833525
23andMers386833525
23andMe allrs386833525
SNP Nexus

SNPshotrs386833525
SNPdbers386833525
MSV3drs386833525
GWAS Ctlgrs386833525
Max Magnitude0
ClinVar
Risk rs386833525(C;C)
Alt rs386833525(C;C)
Reference rs386833525(G;G)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6592224C>G
CLNSRC ClinVar
CLNACC RCV000049453.1,


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