rs386833531

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(T;T)	3	Likely miscall if from Ancestry data; otherwise, possible mutation

Make rs386833531(C;T)

Reference

GRCh37.p10 37.5/138

Chromosome

9

Position

6587205

Gene

GLDC

is a	snp
is	mentioned by
dbSNP	rs386833531
dbSNP (classic)	rs386833531
ClinGen	rs386833531
ebi	rs386833531
HLI	rs386833531
Exac	rs386833531
Gnomad	rs386833531
Varsome	rs386833531
LitVar	rs386833531
Map	rs386833531
PheGenI	rs386833531
Biobank	rs386833531
1000 genomes	rs386833531
hgdp	rs386833531
ensembl	rs386833531
geneview	rs386833531
scholar	rs386833531
google	rs386833531
pharmgkb	rs386833531
gwascentral	rs386833531
openSNP	rs386833531
23andMe	rs386833531
SNPshot	rs386833531
SNPdbe	rs386833531
MSV3d	rs386833531
GWAS Ctlg	rs386833531

Max Magnitude

3

ClinVar
Risk	Rs386833531(T;T)
Alt	Rs386833531(T;T)
Reference	Rs386833531(C;C)
Significance	Probable-Pathogenic
Disease	Non-ketotic hyperglycinemia
Variation	info
Gene	GLDC
CLNDBN	Non-ketotic hyperglycinemia
Reversed	1
HGVS	NC_000009.11:g.6587205G>A
CLNSRC	ClinVar
CLNACC	RCV000049459.1,

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