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rs386833542

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833542(C;C)
Make rs386833542(C;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6556173
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833542
ebirs386833542
HLIrs386833542
Exacrs386833542
Varsomers386833542
Maprs386833542
PheGenIrs386833542
hapmaprs386833542
1000 genomesrs386833542
hgdprs386833542
ensemblrs386833542
gopubmedrs386833542
geneviewrs386833542
scholarrs386833542
googlers386833542
pharmgkbrs386833542
gwascentralrs386833542
openSNPrs386833542
23andMers386833542
23andMe allrs386833542
SNP Nexus

SNPshotrs386833542
SNPdbers386833542
MSV3drs386833542
GWAS Ctlgrs386833542
Max Magnitude0
ClinVar
Risk rs386833542(C;C)
Alt rs386833542(C;C)
Reference rs386833542(G;G)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6556173C>G
CLNSRC ClinVar
CLNACC RCV000049470.1,


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