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rs386833557

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833557(A;A)
Make rs386833557(A;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6553411
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833557
ebirs386833557
HLIrs386833557
Exacrs386833557
Varsomers386833557
Maprs386833557
PheGenIrs386833557
hapmaprs386833557
1000 genomesrs386833557
hgdprs386833557
ensemblrs386833557
gopubmedrs386833557
geneviewrs386833557
scholarrs386833557
googlers386833557
pharmgkbrs386833557
gwascentralrs386833557
openSNPrs386833557
23andMers386833557
23andMe allrs386833557
SNP Nexus

SNPshotrs386833557
SNPdbers386833557
MSV3drs386833557
GWAS Ctlgrs386833557
Max Magnitude0
ClinVar
Risk rs386833557(A;A)
Alt rs386833557(A;A)
Reference rs386833557(G;G)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6553411C>T
CLNSRC ClinVar
CLNACC RCV000049485.1,


[PMID 12402263] Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.