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rs386833568

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833568(A;A)
Make rs386833568(A;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6536059
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833568
ebirs386833568
HLIrs386833568
Exacrs386833568
Varsomers386833568
Maprs386833568
PheGenIrs386833568
hapmaprs386833568
1000 genomesrs386833568
hgdprs386833568
ensemblrs386833568
gopubmedrs386833568
geneviewrs386833568
scholarrs386833568
googlers386833568
pharmgkbrs386833568
gwascentralrs386833568
openSNPrs386833568
23andMers386833568
23andMe allrs386833568
SNP Nexus

SNPshotrs386833568
SNPdbers386833568
MSV3drs386833568
GWAS Ctlgrs386833568
Max Magnitude0
ClinVar
Risk rs386833568(A;A)
Alt rs386833568(A;A)
Reference rs386833568(G;G)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6536059C>T
CLNSRC ClinVar
CLNACC RCV000049496.1,


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