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rs386833534

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833534(A;A)
Make rs386833534(A;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6565353
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833534
ebirs386833534
HLIrs386833534
Exacrs386833534
Varsomers386833534
Maprs386833534
PheGenIrs386833534
hapmaprs386833534
1000 genomesrs386833534
hgdprs386833534
ensemblrs386833534
gopubmedrs386833534
geneviewrs386833534
scholarrs386833534
googlers386833534
pharmgkbrs386833534
gwascentralrs386833534
openSNPrs386833534
23andMers386833534
23andMe allrs386833534
SNP Nexus

SNPshotrs386833534
SNPdbers386833534
MSV3drs386833534
GWAS Ctlgrs386833534
Max Magnitude0
ClinVar
Risk rs386833534(A;A)
Alt rs386833534(A;A)
Reference rs386833534(G;G)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6565353C>T
CLNSRC ClinVar
CLNACC RCV000049462.1,


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