rs1057516659

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;G)	3	Carrier of a glycogen storage disease type 2 mutation

Make rs1057516659(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80117020

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057516659
dbSNP (classic)	rs1057516659
ClinGen	rs1057516659
ebi	rs1057516659
HLI	rs1057516659
Exac	rs1057516659
Gnomad	rs1057516659
Varsome	rs1057516659
LitVar	rs1057516659
Map	rs1057516659
PheGenI	rs1057516659
Biobank	rs1057516659
1000 genomes	rs1057516659
hgdp	rs1057516659
ensembl	rs1057516659
geneview	rs1057516659
scholar	rs1057516659
google	rs1057516659
pharmgkb	rs1057516659
gwascentral	rs1057516659
openSNP	rs1057516659
23andMe	rs1057516659
SNPshot	rs1057516659
SNPdbe	rs1057516659
MSV3d	rs1057516659
GWAS Ctlg	rs1057516659

Max Magnitude

3

aka c.2242dup

ClinVar
Risk	rs1057516659(G;G)
Alt	rs1057516659(G;G)
Reference	Rs1057516659(-;-)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78090819dupG
CLNSRC
CLNACC	RCV000411023.1,