rs113994130

Orientation

plus

Stabilized

plus

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

Make rs113994130(C;T)

Make rs113994130(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

99884612

Gene

AGL

is a	snp
is	mentioned by
dbSNP	rs113994130
dbSNP (classic)	rs113994130
ClinGen	rs113994130
ebi	rs113994130
HLI	rs113994130
Exac	rs113994130
Gnomad	rs113994130
Varsome	rs113994130
LitVar	rs113994130
Map	rs113994130
PheGenI	rs113994130
Biobank	rs113994130
1000 genomes	rs113994130
hgdp	rs113994130
ensembl	rs113994130
geneview	rs113994130
scholar	rs113994130
google	rs113994130
pharmgkb	rs113994130
gwascentral	rs113994130
openSNP	rs113994130
23andMe	rs113994130
SNPshot	rs113994130
SNPdbe	rs113994130
MSV3d	rs113994130
GWAS Ctlg	rs113994130

Max Magnitude

0

ClinVar
Risk	rs113994130(T;T)
Alt	rs113994130(T;T)
Reference	Rs113994130(C;C)
Significance	Pathogenic
Disease	Glycogen storage disease type III
Variation	info
Gene	AGL
CLNDBN	Glycogen storage disease type III
Reversed	0
HGVS	NC_000001.10:g.100350168C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020376.2,

OMIM	232400
Desc
Variant
Related	also