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rs386833587

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833587(C;T)
Make rs386833587(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6605186
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833587
ebirs386833587
HLIrs386833587
Exacrs386833587
Varsomers386833587
Maprs386833587
PheGenIrs386833587
hapmaprs386833587
1000 genomesrs386833587
hgdprs386833587
ensemblrs386833587
gopubmedrs386833587
geneviewrs386833587
scholarrs386833587
googlers386833587
pharmgkbrs386833587
gwascentralrs386833587
openSNPrs386833587
23andMers386833587
23andMe allrs386833587
SNP Nexus

SNPshotrs386833587
SNPdbers386833587
MSV3drs386833587
GWAS Ctlgrs386833587
Max Magnitude0
ClinVar
Risk rs386833587(T;T)
Alt rs386833587(T;T)
Reference rs386833587(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6605186G>A
CLNSRC ClinVar
CLNACC RCV000049513.1,


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