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

rs386833546

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs386833546(-;-)
Make rs386833546(-;GT)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position6554770
GeneGLDC
is asnp
is mentioned by
dbSNPrs386833546
ebirs386833546
HLIrs386833546
Exacrs386833546
Varsomers386833546
Maprs386833546
PheGenIrs386833546
hapmaprs386833546
1000 genomesrs386833546
hgdprs386833546
ensemblrs386833546
gopubmedrs386833546
geneviewrs386833546
scholarrs386833546
googlers386833546
pharmgkbrs386833546
gwascentralrs386833546
openSNPrs386833546
23andMers386833546
23andMe allrs386833546
SNP Nexus

SNPshotrs386833546
SNPdbers386833546
MSV3drs386833546
GWAS Ctlgrs386833546
Max Magnitude0
ClinVar
Risk rs386833546(;)
Alt rs386833546(;)
Reference rs386833546(GT;GT)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000009.11:g.6554770_6554771delAC
CLNSRC ClinVar
CLNACC RCV000049474.1,


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