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rs386833563

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833563(A;A)
Make rs386833563(A;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6645244
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833563
ebirs386833563
HLIrs386833563
Exacrs386833563
Varsomers386833563
Maprs386833563
PheGenIrs386833563
hapmaprs386833563
1000 genomesrs386833563
hgdprs386833563
ensemblrs386833563
gopubmedrs386833563
geneviewrs386833563
scholarrs386833563
googlers386833563
pharmgkbrs386833563
gwascentralrs386833563
openSNPrs386833563
23andMers386833563
23andMe allrs386833563
SNP Nexus

SNPshotrs386833563
SNPdbers386833563
MSV3drs386833563
GWAS Ctlgrs386833563
Max Magnitude0
ClinVar
Risk rs386833563(A;A)
Alt rs386833563(A;A)
Reference rs386833563(G;G)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6645244C>T
CLNSRC ClinVar
CLNACC RCV000049491.1,


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