rs121964976

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/142

Chromosome

9

Position

6589230

Gene

GLDC

is a	snp
is	mentioned by
dbSNP	rs121964976
dbSNP (classic)	rs121964976
ClinGen	rs121964976
ebi	rs121964976
HLI	rs121964976
Exac	rs121964976
Gnomad	rs121964976
Varsome	rs121964976
LitVar	rs121964976
Map	rs121964976
PheGenI	rs121964976
Biobank	rs121964976
1000 genomes	rs121964976
hgdp	rs121964976
ensembl	rs121964976
geneview	rs121964976
scholar	rs121964976
google	rs121964976
pharmgkb	rs121964976
gwascentral	rs121964976
openSNP	rs121964976
23andMe	rs121964976
SNPshot	rs121964976
SNPdbe	rs121964976
MSV3d	rs121964976
GWAS Ctlg	rs121964976

GMAF

0.01791

Max Magnitude

8.8

OMIM	238300
Desc
Variant	0004
Related	also

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,