rs387906245

Merged into

rs113994134

Orientation

plus

Stabilized

plus

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

Make rs387906245(-;-)

Make rs387906245(-;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

99916706

Gene

AGL

is a	snp
is	mentioned by
dbSNP	rs387906245
dbSNP (classic)	rs387906245
ClinGen	rs387906245
ebi	rs387906245
HLI	rs387906245
Exac	rs387906245
Gnomad	rs387906245
Varsome	rs387906245
LitVar	rs387906245
Map	rs387906245
PheGenI	rs387906245
Biobank	rs387906245
1000 genomes	rs387906245
hgdp	rs387906245
ensembl	rs387906245
geneview	rs387906245
scholar	rs387906245
google	rs387906245
pharmgkb	rs387906245
gwascentral	rs387906245
openSNP	rs387906245
23andMe	rs387906245
SNPshot	rs387906245
SNPdbe	rs387906245
MSV3d	rs387906245
GWAS Ctlg	rs387906245

Status

Merged into rs113994134

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs387906245(T;T)
Significance	Pathogenic
Disease	Glycogen storage disease IIIa Glycogen storage disease type III
Variation	info
Gene	AGL
CLNDBN	Glycogen storage disease IIIa Glycogen storage disease type III
Reversed	0
HGVS	NC_000001.10:g.100382262delT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001156.3, RCV000177731.2,