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rs386833570

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833570(C;T)
Make rs386833570(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6534781
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833570
ebirs386833570
HLIrs386833570
Exacrs386833570
Varsomers386833570
Maprs386833570
PheGenIrs386833570
hapmaprs386833570
1000 genomesrs386833570
hgdprs386833570
ensemblrs386833570
gopubmedrs386833570
geneviewrs386833570
scholarrs386833570
googlers386833570
pharmgkbrs386833570
gwascentralrs386833570
openSNPrs386833570
23andMers386833570
23andMe allrs386833570
SNP Nexus

SNPshotrs386833570
SNPdbers386833570
MSV3drs386833570
GWAS Ctlgrs386833570
Max Magnitude0
ClinVar
Risk rs386833570(T;T)
Alt rs386833570(T;T)
Reference rs386833570(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6534781G>A
CLNSRC ClinVar
CLNACC RCV000049498.1,


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