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rs386833516

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833516(-;-)
Make rs386833516(-;T)
Make rs386833516(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6604643
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833516
ebirs386833516
HLIrs386833516
Exacrs386833516
Varsomers386833516
Maprs386833516
PheGenIrs386833516
hapmaprs386833516
1000 genomesrs386833516
hgdprs386833516
ensemblrs386833516
gopubmedrs386833516
geneviewrs386833516
scholarrs386833516
googlers386833516
pharmgkbrs386833516
gwascentralrs386833516
openSNPrs386833516
23andMers386833516
23andMe allrs386833516
SNP Nexus

SNPshotrs386833516
SNPdbers386833516
MSV3drs386833516
GWAS Ctlgrs386833516
Max Magnitude0
ClinVar
Risk rs386833516(T;T)
Alt rs386833516(T;T)
Reference rs386833516(;)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6604644dupA
CLNSRC ClinVar
CLNACC RCV000049444.1,


[PMID 16601880] Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.