rs386833546

Orientation

minus

Stabilized

minus

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

Make rs386833546(-;-)

Make rs386833546(-;GT)

Reference

GRCh37.p10 37.5/138

Chromosome

9

Position

6554770

Gene

GLDC

is a	snp
is	mentioned by
dbSNP	rs386833546
dbSNP (classic)	rs386833546
ClinGen	rs386833546
ebi	rs386833546
HLI	rs386833546
Exac	rs386833546
Gnomad	rs386833546
Varsome	rs386833546
LitVar	rs386833546
Map	rs386833546
PheGenI	rs386833546
Biobank	rs386833546
1000 genomes	rs386833546
hgdp	rs386833546
ensembl	rs386833546
geneview	rs386833546
scholar	rs386833546
google	rs386833546
pharmgkb	rs386833546
gwascentral	rs386833546
openSNP	rs386833546
23andMe	rs386833546
SNPshot	rs386833546
SNPdbe	rs386833546
MSV3d	rs386833546
GWAS Ctlg	rs386833546

Max Magnitude

0

ClinVar
Risk	rs386833546(-;-)
Alt	rs386833546(-;-)
Reference	Rs386833546(GT;GT)
Significance	Probable-Pathogenic
Disease	Non-ketotic hyperglycinemia
Variation	info
Gene	GLDC
CLNDBN	Non-ketotic hyperglycinemia
Reversed	1
HGVS	NC_000009.11:g.6554770_6554771delAC
CLNSRC	ClinVar
CLNACC	RCV000049474.1,

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