rs386833537

Orientation

minus

Stabilized

minus

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

Make rs386833537(C;T)

Make rs386833537(T;T)

Reference

GRCh37.p10 37.5/138

Chromosome

9

Position

6558615

Gene

GLDC

is a	snp
is	mentioned by
dbSNP	rs386833537
dbSNP (classic)	rs386833537
ClinGen	rs386833537
ebi	rs386833537
HLI	rs386833537
Exac	rs386833537
Gnomad	rs386833537
Varsome	rs386833537
LitVar	rs386833537
Map	rs386833537
PheGenI	rs386833537
Biobank	rs386833537
1000 genomes	rs386833537
hgdp	rs386833537
ensembl	rs386833537
geneview	rs386833537
scholar	rs386833537
google	rs386833537
pharmgkb	rs386833537
gwascentral	rs386833537
openSNP	rs386833537
23andMe	rs386833537
SNPshot	rs386833537
SNPdbe	rs386833537
MSV3d	rs386833537
GWAS Ctlg	rs386833537

Max Magnitude

0

ClinVar
Risk	rs386833537(T;T)
Alt	rs386833537(T;T)
Reference	Rs386833537(C;C)
Significance	Probable-Pathogenic
Disease	Non-ketotic hyperglycinemia
Variation	info
Gene	GLDC
CLNDBN	Non-ketotic hyperglycinemia
Reversed	1
HGVS	NC_000009.11:g.6558615G>A
CLNSRC	ClinVar
CLNACC	RCV000049465.1,

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