rs113994129

Orientation

plus

Stabilized

plus

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

Make rs113994129(A;A)

Make rs113994129(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

99881329

Gene

AGL

is a	snp
is	mentioned by
dbSNP	rs113994129
dbSNP (classic)	rs113994129
ClinGen	rs113994129
ebi	rs113994129
HLI	rs113994129
Exac	rs113994129
Gnomad	rs113994129
Varsome	rs113994129
LitVar	rs113994129
Map	rs113994129
PheGenI	rs113994129
Biobank	rs113994129
1000 genomes	rs113994129
hgdp	rs113994129
ensembl	rs113994129
geneview	rs113994129
scholar	rs113994129
google	rs113994129
pharmgkb	rs113994129
gwascentral	rs113994129
openSNP	rs113994129
23andMe	rs113994129
SNPshot	rs113994129
SNPdbe	rs113994129
MSV3d	rs113994129
GWAS Ctlg	rs113994129

Max Magnitude

0

OMIM	610860
Desc
Variant	0003
Related	also

ClinVar
Risk	rs113994129(A;A)
Alt	rs113994129(A;A)
Reference	Rs113994129(G;G)
Significance	Pathogenic
Disease	Glycogen storage disease IIIb Glycogen storage disease type III
Variation	info
Gene	AGL
CLNDBN	Glycogen storage disease IIIb Glycogen storage disease type III
Reversed	0
HGVS	NC_000001.10:g.100346885G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001154.3, RCV000020375.2,