rs1057516254

Orientation

plus

Stabilized

plus

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

Make rs1057516254(C;T)

Make rs1057516254(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

99884627

Gene

AGL

is a	snp
is	mentioned by
dbSNP	rs1057516254
dbSNP (classic)	rs1057516254
ClinGen	rs1057516254
ebi	rs1057516254
HLI	rs1057516254
Exac	rs1057516254
Gnomad	rs1057516254
Varsome	rs1057516254
LitVar	rs1057516254
Map	rs1057516254
PheGenI	rs1057516254
Biobank	rs1057516254
1000 genomes	rs1057516254
hgdp	rs1057516254
ensembl	rs1057516254
geneview	rs1057516254
scholar	rs1057516254
google	rs1057516254
pharmgkb	rs1057516254
gwascentral	rs1057516254
openSNP	rs1057516254
23andMe	rs1057516254
SNPshot	rs1057516254
SNPdbe	rs1057516254
MSV3d	rs1057516254
GWAS Ctlg	rs1057516254

Max Magnitude

0

ClinVar
Risk	rs1057516254(T;T)
Alt	rs1057516254(T;T)
Reference	Rs1057516254(C;C)
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.100350183C>T
CLNSRC
CLNACC	RCV000409250.1,