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rs386833591

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833591(G;G)
Make rs386833591(G;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6604759
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833591
ebirs386833591
HLIrs386833591
Exacrs386833591
Varsomers386833591
Maprs386833591
PheGenIrs386833591
hapmaprs386833591
1000 genomesrs386833591
hgdprs386833591
ensemblrs386833591
gopubmedrs386833591
geneviewrs386833591
scholarrs386833591
googlers386833591
pharmgkbrs386833591
gwascentralrs386833591
openSNPrs386833591
23andMers386833591
23andMe allrs386833591
SNP Nexus

SNPshotrs386833591
SNPdbers386833591
MSV3drs386833591
GWAS Ctlgrs386833591
Max Magnitude0
ClinVar
Risk rs386833591(G;G)
Alt rs386833591(G;G)
Reference rs386833591(T;T)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6604759A>C
CLNSRC ClinVar
CLNACC RCV000049517.1,


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