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rs386833561

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833561(A;A)
Make rs386833561(A;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6550853
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833561
ebirs386833561
HLIrs386833561
Exacrs386833561
Varsomers386833561
Maprs386833561
PheGenIrs386833561
hapmaprs386833561
1000 genomesrs386833561
hgdprs386833561
ensemblrs386833561
gopubmedrs386833561
geneviewrs386833561
scholarrs386833561
googlers386833561
pharmgkbrs386833561
gwascentralrs386833561
openSNPrs386833561
23andMers386833561
23andMe allrs386833561
SNP Nexus

SNPshotrs386833561
SNPdbers386833561
MSV3drs386833561
GWAS Ctlgrs386833561
Max Magnitude0
ClinVar
Risk rs386833561(A;A)
Alt rs386833561(A;A)
Reference rs386833561(T;T)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6550853A>T
CLNSRC ClinVar
CLNACC RCV000049489.1,


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