rs121909733

Orientation

minus

Stabilized

minus

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

Make rs121909733(A;A)

Make rs121909733(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

87053404

Gene

GLUD1

is a	snp
is	mentioned by
dbSNP	rs121909733
dbSNP (classic)	rs121909733
ClinGen	rs121909733
ebi	rs121909733
HLI	rs121909733
Exac	rs121909733
Gnomad	rs121909733
Varsome	rs121909733
LitVar	rs121909733
Map	rs121909733
PheGenI	rs121909733
Biobank	rs121909733
1000 genomes	rs121909733
hgdp	rs121909733
ensembl	rs121909733
geneview	rs121909733
scholar	rs121909733
google	rs121909733
pharmgkb	rs121909733
gwascentral	rs121909733
openSNP	rs121909733
23andMe	rs121909733
SNPshot	rs121909733
SNPdbe	rs121909733
MSV3d	rs121909733
GWAS Ctlg	rs121909733

Max Magnitude

0

OMIM	138130
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121909733(A;A)
Alt	rs121909733(A;A)
Reference	Rs121909733(G;G)
Significance	Pathogenic
Disease	Hyperinsulinism-hyperammonemia syndrome
Variation	info
Gene	GLUD1
CLNDBN	Hyperinsulinism-hyperammonemia syndrome
Reversed	1
HGVS	NC_000010.10:g.88813161C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017504.27,