rs386833527

Orientation

minus

Stabilized

minus

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

Make rs386833527(C;G)

Make rs386833527(G;G)

Reference

GRCh37.p10 37.5/138

Chromosome

9

Position

6588688

Gene

GLDC

is a	snp
is	mentioned by
dbSNP	rs386833527
dbSNP (classic)	rs386833527
ClinGen	rs386833527
ebi	rs386833527
HLI	rs386833527
Exac	rs386833527
Gnomad	rs386833527
Varsome	rs386833527
LitVar	rs386833527
Map	rs386833527
PheGenI	rs386833527
Biobank	rs386833527
1000 genomes	rs386833527
hgdp	rs386833527
ensembl	rs386833527
geneview	rs386833527
scholar	rs386833527
google	rs386833527
pharmgkb	rs386833527
gwascentral	rs386833527
openSNP	rs386833527
23andMe	rs386833527
SNPshot	rs386833527
SNPdbe	rs386833527
MSV3d	rs386833527
GWAS Ctlg	rs386833527

Max Magnitude

0

ClinVar
Risk	rs386833527(G;G)
Alt	rs386833527(G;G)
Reference	Rs386833527(C;C)
Significance	Probable-Pathogenic
Disease	Non-ketotic hyperglycinemia
Variation	info
Gene	GLDC
CLNDBN	Non-ketotic hyperglycinemia
Reversed	1
HGVS	NC_000009.11:g.6588688G>C
CLNSRC	ClinVar
CLNACC	RCV000049455.1,

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