Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833526

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833526(-;-)
Make rs386833526(-;G)
Make rs386833526(G;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6592180
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833526
ebirs386833526
HLIrs386833526
Exacrs386833526
Varsomers386833526
Maprs386833526
PheGenIrs386833526
hapmaprs386833526
1000 genomesrs386833526
hgdprs386833526
ensemblrs386833526
gopubmedrs386833526
geneviewrs386833526
scholarrs386833526
googlers386833526
pharmgkbrs386833526
gwascentralrs386833526
openSNPrs386833526
23andMers386833526
23andMe allrs386833526
SNP Nexus

SNPshotrs386833526
SNPdbers386833526
MSV3drs386833526
GWAS Ctlgrs386833526
Max Magnitude0
ClinVar
Risk rs386833526(G;G)
Alt rs386833526(G;G)
Reference rs386833526(;)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6592181dupC
CLNSRC ClinVar
CLNACC RCV000049454.1,


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