rs386833526

Orientation

minus

Stabilized

minus

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

Make rs386833526(-;G)

Make rs386833526(G;G)

Reference

GRCh37.p10 37.5/138

Chromosome

9

Position

6592180

Gene

GLDC

is a	snp
is	mentioned by
dbSNP	rs386833526
dbSNP (classic)	rs386833526
ClinGen	rs386833526
ebi	rs386833526
HLI	rs386833526
Exac	rs386833526
Gnomad	rs386833526
Varsome	rs386833526
LitVar	rs386833526
Map	rs386833526
PheGenI	rs386833526
Biobank	rs386833526
1000 genomes	rs386833526
hgdp	rs386833526
ensembl	rs386833526
geneview	rs386833526
scholar	rs386833526
google	rs386833526
pharmgkb	rs386833526
gwascentral	rs386833526
openSNP	rs386833526
23andMe	rs386833526
SNPshot	rs386833526
SNPdbe	rs386833526
MSV3d	rs386833526
GWAS Ctlg	rs386833526

Max Magnitude

0

ClinVar
Risk	rs386833526(G;G)
Alt	rs386833526(G;G)
Reference	Rs386833526(-;-)
Significance	Probable-Pathogenic
Disease	Non-ketotic hyperglycinemia
Variation	info
Gene	GLDC
CLNDBN	Non-ketotic hyperglycinemia
Reversed	1
HGVS	NC_000009.11:g.6592181dupC
CLNSRC	ClinVar
CLNACC	RCV000049454.1,

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