rs386833586

Orientation

minus

Stabilized

minus

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

Make rs386833586(-;-)

Make rs386833586(-;C)

Reference

GRCh37.p10 37.5/138

Chromosome

9

Position

6605199

Gene

GLDC

is a	snp
is	mentioned by
dbSNP	rs386833586
dbSNP (classic)	rs386833586
ClinGen	rs386833586
ebi	rs386833586
HLI	rs386833586
Exac	rs386833586
Gnomad	rs386833586
Varsome	rs386833586
LitVar	rs386833586
Map	rs386833586
PheGenI	rs386833586
Biobank	rs386833586
1000 genomes	rs386833586
hgdp	rs386833586
ensembl	rs386833586
geneview	rs386833586
scholar	rs386833586
google	rs386833586
pharmgkb	rs386833586
gwascentral	rs386833586
openSNP	rs386833586
23andMe	rs386833586
SNPshot	rs386833586
SNPdbe	rs386833586
MSV3d	rs386833586
GWAS Ctlg	rs386833586

Max Magnitude

0

ClinVar
Risk	rs386833586(-;-)
Alt	rs386833586(-;-)
Reference	Rs386833586(C;C)
Significance	Probable-Pathogenic
Disease	Non-ketotic hyperglycinemia
Variation	info
Gene	GLDC
CLNDBN	Non-ketotic hyperglycinemia
Reversed	1
HGVS	NC_000009.11:g.6605199delG
CLNSRC	ClinVar
CLNACC	RCV000049512.1,

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