rs386833564

Orientation

minus

Stabilized

minus

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

Make rs386833564(G;G)

Make rs386833564(G;T)

Reference

GRCh37.p10 37.5/138

Chromosome

9

Position

6540142

Gene

GLDC

is a	snp
is	mentioned by
dbSNP	rs386833564
dbSNP (classic)	rs386833564
ClinGen	rs386833564
ebi	rs386833564
HLI	rs386833564
Exac	rs386833564
Gnomad	rs386833564
Varsome	rs386833564
LitVar	rs386833564
Map	rs386833564
PheGenI	rs386833564
Biobank	rs386833564
1000 genomes	rs386833564
hgdp	rs386833564
ensembl	rs386833564
geneview	rs386833564
scholar	rs386833564
google	rs386833564
pharmgkb	rs386833564
gwascentral	rs386833564
openSNP	rs386833564
23andMe	rs386833564
SNPshot	rs386833564
SNPdbe	rs386833564
MSV3d	rs386833564
GWAS Ctlg	rs386833564

Max Magnitude

0

ClinVar
Risk	rs386833564(C;C) rs386833564(G;G)
Alt	rs386833564(C;C) rs386833564(G;G)
Reference	Rs386833564(T;T)
Significance	Probable-Pathogenic
Disease	Non-ketotic hyperglycinemia
Variation	info
Gene	GLDC
CLNDBN	Non-ketotic hyperglycinemia
Reversed	1
HGVS	NC_000009.11:g.6540142A>C
CLNSRC	ClinVar
CLNACC	RCV000049492.1,

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