rs1057516513

Orientation

plus

Stabilized

plus

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

Make rs1057516513(A;A)

Make rs1057516513(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

99900635

Gene

AGL

is a	snp
is	mentioned by
dbSNP	rs1057516513
dbSNP (classic)	rs1057516513
ClinGen	rs1057516513
ebi	rs1057516513
HLI	rs1057516513
Exac	rs1057516513
Gnomad	rs1057516513
Varsome	rs1057516513
LitVar	rs1057516513
Map	rs1057516513
PheGenI	rs1057516513
Biobank	rs1057516513
1000 genomes	rs1057516513
hgdp	rs1057516513
ensembl	rs1057516513
geneview	rs1057516513
scholar	rs1057516513
google	rs1057516513
pharmgkb	rs1057516513
gwascentral	rs1057516513
openSNP	rs1057516513
23andMe	rs1057516513
SNPshot	rs1057516513
SNPdbe	rs1057516513
MSV3d	rs1057516513
GWAS Ctlg	rs1057516513

Max Magnitude

0

ClinVar
Risk	rs1057516513(A;A)
Alt	rs1057516513(A;A)
Reference	Rs1057516513(G;G)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease type III
Variation	info
Gene	AGL
CLNDBN	Glycogen storage disease type III
Reversed	0
HGVS	NC_000001.10:g.100366191G>A
CLNSRC
CLNACC	RCV000409092.1,