rs386833536

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs386833536(A;G)

Make rs386833536(G;G)

Reference

GRCh37.p10 37.5/138

Chromosome

9

Position

6558659

Gene

GLDC

is a	snp
is	mentioned by
dbSNP	rs386833536
dbSNP (classic)	rs386833536
ClinGen	rs386833536
ebi	rs386833536
HLI	rs386833536
Exac	rs386833536
Gnomad	rs386833536
Varsome	rs386833536
LitVar	rs386833536
Map	rs386833536
PheGenI	rs386833536
Biobank	rs386833536
1000 genomes	rs386833536
hgdp	rs386833536
ensembl	rs386833536
geneview	rs386833536
scholar	rs386833536
google	rs386833536
pharmgkb	rs386833536
gwascentral	rs386833536
openSNP	rs386833536
23andMe	rs386833536
SNPshot	rs386833536
SNPdbe	rs386833536
MSV3d	rs386833536
GWAS Ctlg	rs386833536

Max Magnitude

0

ClinVar
Risk	rs386833536(G;G)
Alt	rs386833536(G;G)
Reference	Rs386833536(A;A)
Significance	Probable-Pathogenic
Disease	Non-ketotic hyperglycinemia not provided
Variation	info
Gene	GLDC
CLNDBN	Non-ketotic hyperglycinemia not provided
Reversed	1
HGVS	NC_000009.11:g.6558659T>C
CLNSRC	ClinVar
CLNACC	RCV000049464.1, RCV000430656.1,

[PMID 16601880] Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.