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rs386833590

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833590(G;T)
Make rs386833590(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6605130
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833590
ebirs386833590
HLIrs386833590
Exacrs386833590
Varsomers386833590
Maprs386833590
PheGenIrs386833590
hapmaprs386833590
1000 genomesrs386833590
hgdprs386833590
ensemblrs386833590
gopubmedrs386833590
geneviewrs386833590
scholarrs386833590
googlers386833590
pharmgkbrs386833590
gwascentralrs386833590
openSNPrs386833590
23andMers386833590
23andMe allrs386833590
SNP Nexus

SNPshotrs386833590
SNPdbers386833590
MSV3drs386833590
GWAS Ctlgrs386833590
Max Magnitude0
ClinVar
Risk rs386833590(T;T)
Alt rs386833590(T;T)
Reference rs386833590(G;G)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6605130C>A
CLNSRC ClinVar
CLNACC RCV000049516.1,


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