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rs386833580

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833580(A;G)
Make rs386833580(G;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6610345
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833580
ebirs386833580
HLIrs386833580
Exacrs386833580
Varsomers386833580
Maprs386833580
PheGenIrs386833580
hapmaprs386833580
1000 genomesrs386833580
hgdprs386833580
ensemblrs386833580
gopubmedrs386833580
geneviewrs386833580
scholarrs386833580
googlers386833580
pharmgkbrs386833580
gwascentralrs386833580
openSNPrs386833580
23andMers386833580
23andMe allrs386833580
SNP Nexus

SNPshotrs386833580
SNPdbers386833580
MSV3drs386833580
GWAS Ctlgrs386833580
Max Magnitude0
ClinVar
Risk rs386833580(G;G)
Alt rs386833580(G;G)
Reference rs386833580(A;A)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6610345T>C
CLNSRC ClinVar
CLNACC RCV000049507.1,


[PMID 16404748] Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation.