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rs386833522

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833522(-;-)
Make rs386833522(-;CAAA)
Make rs386833522(CAAA;CAAA)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6592966
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833522
ebirs386833522
HLIrs386833522
Exacrs386833522
Varsomers386833522
Maprs386833522
PheGenIrs386833522
hapmaprs386833522
1000 genomesrs386833522
hgdprs386833522
ensemblrs386833522
gopubmedrs386833522
geneviewrs386833522
scholarrs386833522
googlers386833522
pharmgkbrs386833522
gwascentralrs386833522
openSNPrs386833522
23andMers386833522
23andMe allrs386833522
SNP Nexus

SNPshotrs386833522
SNPdbers386833522
MSV3drs386833522
GWAS Ctlgrs386833522
Max Magnitude0
ClinVar
Risk rs386833522(CAAA;CAAA)
Alt rs386833522(CAAA;CAAA)
Reference rs386833522(;)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6592966_6592967insTTTG
CLNSRC ClinVar
CLNACC RCV000049450.1,


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