rs386833522

Orientation

minus

Stabilized

minus

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

Make rs386833522(-;CAAA)

Make rs386833522(CAAA;CAAA)

Reference

GRCh37.p10 37.5/138

Chromosome

9

Position

6592966

Gene

GLDC

is a	snp
is	mentioned by
dbSNP	rs386833522
dbSNP (classic)	rs386833522
ClinGen	rs386833522
ebi	rs386833522
HLI	rs386833522
Exac	rs386833522
Gnomad	rs386833522
Varsome	rs386833522
LitVar	rs386833522
Map	rs386833522
PheGenI	rs386833522
Biobank	rs386833522
1000 genomes	rs386833522
hgdp	rs386833522
ensembl	rs386833522
geneview	rs386833522
scholar	rs386833522
google	rs386833522
pharmgkb	rs386833522
gwascentral	rs386833522
openSNP	rs386833522
23andMe	rs386833522
SNPshot	rs386833522
SNPdbe	rs386833522
MSV3d	rs386833522
GWAS Ctlg	rs386833522

Max Magnitude

0

ClinVar
Risk	rs386833522(CAAA;CAAA)
Alt	rs386833522(CAAA;CAAA)
Reference	Rs386833522(-;-)
Significance	Probable-Pathogenic
Disease	Non-ketotic hyperglycinemia
Variation	info
Gene	GLDC
CLNDBN	Non-ketotic hyperglycinemia
Reversed	1
HGVS	NC_000009.11:g.6592966_6592967insTTTG
CLNSRC	ClinVar
CLNACC	RCV000049450.1,

[PMID 16601880] Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.