rs80358215

Orientation

minus

Stabilized

minus

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

Make rs80358215(C;T)

Make rs80358215(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

182384506

Gene

GLUL

is a	snp
is	mentioned by
dbSNP	rs80358215
dbSNP (classic)	rs80358215
ClinGen	rs80358215
ebi	rs80358215
HLI	rs80358215
Exac	rs80358215
Gnomad	rs80358215
Varsome	rs80358215
LitVar	rs80358215
Map	rs80358215
PheGenI	rs80358215
Biobank	rs80358215
1000 genomes	rs80358215
hgdp	rs80358215
ensembl	rs80358215
geneview	rs80358215
scholar	rs80358215
google	rs80358215
pharmgkb	rs80358215
gwascentral	rs80358215
openSNP	rs80358215
23andMe	rs80358215
SNPshot	rs80358215
SNPdbe	rs80358215
MSV3d	rs80358215
GWAS Ctlg	rs80358215

Max Magnitude

0

OMIM	138290
Desc
Variant	0002
Related	also

ClinVar
Risk	rs80358215(T;T)
Alt	rs80358215(T;T)
Reference	Rs80358215(C;C)
Significance	Pathogenic
Disease	Glutamine deficiency
Variation	info
Gene	GLUL
CLNDBN	Glutamine deficiency, congenital
Reversed	1
HGVS	NC_000001.10:g.182353641G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017464.27,