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rs386833564

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833564(G;G)
Make rs386833564(G;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6540142
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833564
ebirs386833564
HLIrs386833564
Exacrs386833564
Varsomers386833564
Maprs386833564
PheGenIrs386833564
hapmaprs386833564
1000 genomesrs386833564
hgdprs386833564
ensemblrs386833564
gopubmedrs386833564
geneviewrs386833564
scholarrs386833564
googlers386833564
pharmgkbrs386833564
gwascentralrs386833564
openSNPrs386833564
23andMers386833564
23andMe allrs386833564
SNP Nexus

SNPshotrs386833564
SNPdbers386833564
MSV3drs386833564
GWAS Ctlgrs386833564
Max Magnitude0
ClinVar
Risk rs386833564(C,G;C,G)
Alt rs386833564(C,G;C,G)
Reference rs386833564(T;T)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6540142A>C
CLNSRC ClinVar
CLNACC RCV000049492.1,


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