rs149070244

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	3	Carrier of a glycine encephalopathy mutation
(G;G)	8.8	Glycine encephalopathy; Non-ketotic hyperglycinemia

Reference

GRCh38.p7 38.3/149

Chromosome

9

Position

6540050

Gene

GLDC

is a	snp
is	mentioned by
dbSNP	rs149070244
dbSNP (classic)	rs149070244
ClinGen	rs149070244
ebi	rs149070244
HLI	rs149070244
Exac	rs149070244
Gnomad	rs149070244
Varsome	rs149070244
LitVar	rs149070244
Map	rs149070244
PheGenI	rs149070244
Biobank	rs149070244
1000 genomes	rs149070244
hgdp	rs149070244
ensembl	rs149070244
geneview	rs149070244
scholar	rs149070244
google	rs149070244
pharmgkb	rs149070244
gwascentral	rs149070244
openSNP	rs149070244
23andMe	rs149070244
SNPshot	rs149070244
SNPdbe	rs149070244
MSV3d	rs149070244
GWAS Ctlg	rs149070244

Max Magnitude

8.8

c.2665+1G>C

ClinVar
Risk	Rs149070244(G;G)
Alt	Rs149070244(G;G)
Reference	Rs149070244(C;C)
Significance	Pathogenic
Disease	not provided Non-ketotic hyperglycinemia
Variation	info
Gene	GLDC
CLNDBN	not provided Non-ketotic hyperglycinemia
Reversed	0
HGVS	NC_000009.11:g.6540050C>G
CLNSRC
CLNACC	RCV000353440.1, RCV000411816.1,