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rs121964976

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 8.8 Glycine encephalopathy; Non-ketotic hyperglycinemia
(C;G) 3 Carrier of a glycine encephalopathy mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome9
Position6589230
GeneGLDC
is asnp
is mentioned by
dbSNPrs121964976
dbSNP (classic)rs121964976
ClinGenrs121964976
ebirs121964976
HLIrs121964976
Exacrs121964976
Gnomadrs121964976
Varsomers121964976
LitVarrs121964976
Maprs121964976
PheGenIrs121964976
Biobankrs121964976
1000 genomesrs121964976
hgdprs121964976
ensemblrs121964976
geneviewrs121964976
scholarrs121964976
googlers121964976
pharmgkbrs121964976
gwascentralrs121964976
openSNPrs121964976
23andMers121964976
SNPshotrs121964976
SNPdbers121964976
MSV3drs121964976
GWAS Ctlgrs121964976
GMAF0.01791
Max Magnitude8.8
OMIM238300
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121964976(A;A) Rs121964976(C;C)
Alt rs121964976(A;A) Rs121964976(C;C)
Reference Rs121964976(G;G)
Significance Pathogenic
Disease Non-ketotic hyperglycinemia Generalized epilepsy Global developmental delay Obesity not specified
Variation info
Gene GLDC
CLNDBN Non-ketotic hyperglycinemia Generalized epilepsy Global developmental delay Obesity not specified
Reversed 1
HGVS NC_000009.11:g.6589230C>G; NC_000009.11:g.6589230C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012765.16, RCV000449527.1, RCV000248102.1,