rs113994127

Orientation

plus

Stabilized

plus

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

Make rs113994127(-;-)

Make rs113994127(-;AG)

Reference

GRCh38 38.1/141

Chromosome

1

Position

99851059

Gene

AGL

is a	snp
is	mentioned by
dbSNP	rs113994127
dbSNP (classic)	rs113994127
ClinGen	rs113994127
ebi	rs113994127
HLI	rs113994127
Exac	rs113994127
Gnomad	rs113994127
Varsome	rs113994127
LitVar	rs113994127
Map	rs113994127
PheGenI	rs113994127
Biobank	rs113994127
1000 genomes	rs113994127
hgdp	rs113994127
ensembl	rs113994127
geneview	rs113994127
scholar	rs113994127
google	rs113994127
pharmgkb	rs113994127
gwascentral	rs113994127
openSNP	rs113994127
23andMe	rs113994127
SNPshot	rs113994127
SNPdbe	rs113994127
MSV3d	rs113994127
GWAS Ctlg	rs113994127

Merged from

Rs794727255

Max Magnitude

0

OMIM	610860
Desc
Variant	0004
Related	also

ClinVar
Risk	rs113994127(-;-) rs113994127(GA;GA)
Alt	rs113994127(-;-) rs113994127(GA;GA)
Reference	Rs113994127(AG;AG)
Significance	Other
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.100316616_100316617delGA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001155.3, RCV000175637.3,