rs121909735

Orientation

minus

Stabilized

minus

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

Make rs121909735(A;C)

Make rs121909735(C;C)

Reference

GRCh38 38.1/141

Chromosome

10

Position

87060928

Gene

GLUD1

is a	snp
is	mentioned by
dbSNP	rs121909735
dbSNP (classic)	rs121909735
ClinGen	rs121909735
ebi	rs121909735
HLI	rs121909735
Exac	rs121909735
Gnomad	rs121909735
Varsome	rs121909735
LitVar	rs121909735
Map	rs121909735
PheGenI	rs121909735
Biobank	rs121909735
1000 genomes	rs121909735
hgdp	rs121909735
ensembl	rs121909735
geneview	rs121909735
scholar	rs121909735
google	rs121909735
pharmgkb	rs121909735
gwascentral	rs121909735
openSNP	rs121909735
23andMe	rs121909735
23andMe all	rs121909735
SNPshot	rs121909735
SNPdbe	rs121909735
MSV3d	rs121909735
GWAS Ctlg	rs121909735

Max Magnitude

0

OMIM	138130
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121909735(C;C)
Alt	rs121909735(C;C)
Reference	Rs121909735(A;A)
Significance	Pathogenic
Disease	Hyperinsulinism-hyperammonemia syndrome
Variation	info
Gene	GLUD1
CLNDBN	Hyperinsulinism-hyperammonemia syndrome
Reversed	1
HGVS	NC_000010.10:g.88820685T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017506.27,