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rs386833552

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833552(C;T)
Make rs386833552(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6554678
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833552
ebirs386833552
HLIrs386833552
Exacrs386833552
Varsomers386833552
Maprs386833552
PheGenIrs386833552
hapmaprs386833552
1000 genomesrs386833552
hgdprs386833552
ensemblrs386833552
gopubmedrs386833552
geneviewrs386833552
scholarrs386833552
googlers386833552
pharmgkbrs386833552
gwascentralrs386833552
openSNPrs386833552
23andMers386833552
23andMe allrs386833552
SNP Nexus

SNPshotrs386833552
SNPdbers386833552
MSV3drs386833552
GWAS Ctlgrs386833552
Max Magnitude0
ClinVar
Risk rs386833552(T;T)
Alt rs386833552(T;T)
Reference rs386833552(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6554678G>A
CLNSRC ClinVar
CLNACC RCV000049480.1,


[PMID 16450403] Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.