rs386833551

Orientation

minus

Stabilized

minus

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

Make rs386833551(C;T)

Make rs386833551(T;T)

Reference

GRCh37.p10 37.5/138

Chromosome

9

Position

6554691

Gene

GLDC

is a	snp
is	mentioned by
dbSNP	rs386833551
dbSNP (classic)	rs386833551
ClinGen	rs386833551
ebi	rs386833551
HLI	rs386833551
Exac	rs386833551
Gnomad	rs386833551
Varsome	rs386833551
LitVar	rs386833551
Map	rs386833551
PheGenI	rs386833551
Biobank	rs386833551
1000 genomes	rs386833551
hgdp	rs386833551
ensembl	rs386833551
geneview	rs386833551
scholar	rs386833551
google	rs386833551
pharmgkb	rs386833551
gwascentral	rs386833551
openSNP	rs386833551
23andMe	rs386833551
SNPshot	rs386833551
SNPdbe	rs386833551
MSV3d	rs386833551
GWAS Ctlg	rs386833551

Max Magnitude

0

ClinVar
Risk	rs386833551(T;T)
Alt	rs386833551(T;T)
Reference	Rs386833551(C;C)
Significance	Probable-Pathogenic
Disease	Non-ketotic hyperglycinemia not provided
Variation	info
Gene	GLDC
CLNDBN	Non-ketotic hyperglycinemia not provided
Reversed	1
HGVS	NC_000009.11:g.6554691G>A
CLNSRC	ClinVar
CLNACC	RCV000049479.1, RCV000419990.1,

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