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rs386833527

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833527(C;G)
Make rs386833527(G;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6588688
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833527
ebirs386833527
HLIrs386833527
Exacrs386833527
Varsomers386833527
Maprs386833527
PheGenIrs386833527
hapmaprs386833527
1000 genomesrs386833527
hgdprs386833527
ensemblrs386833527
gopubmedrs386833527
geneviewrs386833527
scholarrs386833527
googlers386833527
pharmgkbrs386833527
gwascentralrs386833527
openSNPrs386833527
23andMers386833527
23andMe allrs386833527
SNP Nexus

SNPshotrs386833527
SNPdbers386833527
MSV3drs386833527
GWAS Ctlgrs386833527
Max Magnitude0
ClinVar
Risk rs386833527(G;G)
Alt rs386833527(G;G)
Reference rs386833527(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6588688G>C
CLNSRC ClinVar
CLNACC RCV000049455.1,


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