rs121909731

Orientation

minus

Stabilized

minus

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

Make rs121909731(C;T)

Make rs121909731(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

87057692

Gene

GLUD1

is a	snp
is	mentioned by
dbSNP	rs121909731
dbSNP (classic)	rs121909731
ClinGen	rs121909731
ebi	rs121909731
HLI	rs121909731
Exac	rs121909731
Gnomad	rs121909731
Varsome	rs121909731
LitVar	rs121909731
Map	rs121909731
PheGenI	rs121909731
Biobank	rs121909731
1000 genomes	rs121909731
hgdp	rs121909731
ensembl	rs121909731
geneview	rs121909731
scholar	rs121909731
google	rs121909731
pharmgkb	rs121909731
gwascentral	rs121909731
openSNP	rs121909731
23andMe	rs121909731
SNPshot	rs121909731
SNPdbe	rs121909731
MSV3d	rs121909731
GWAS Ctlg	rs121909731

Max Magnitude

0

OMIM	138130
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121909731(G;G) rs121909731(T;T)
Alt	rs121909731(G;G) rs121909731(T;T)
Reference	Rs121909731(C;C)
Significance	Pathogenic
Disease	Hyperinsulinism-hyperammonemia syndrome not provided
Variation	info
Gene	GLUD1
CLNDBN	Hyperinsulinism-hyperammonemia syndrome not provided
Reversed	1
HGVS	NC_000010.10:g.88817449G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017502.28, RCV000185923.2,