rs1057516600

Orientation

plus

Stabilized

plus

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

Make rs1057516600(A;G)

Make rs1057516600(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80107816

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057516600
dbSNP (classic)	rs1057516600
ClinGen	rs1057516600
ebi	rs1057516600
HLI	rs1057516600
Exac	rs1057516600
Gnomad	rs1057516600
Varsome	rs1057516600
LitVar	rs1057516600
Map	rs1057516600
PheGenI	rs1057516600
Biobank	rs1057516600
1000 genomes	rs1057516600
hgdp	rs1057516600
ensembl	rs1057516600
geneview	rs1057516600
scholar	rs1057516600
google	rs1057516600
pharmgkb	rs1057516600
gwascentral	rs1057516600
openSNP	rs1057516600
23andMe	rs1057516600
SNPshot	rs1057516600
SNPdbe	rs1057516600
MSV3d	rs1057516600
GWAS Ctlg	rs1057516600

Max Magnitude

0

ClinVar
Risk	rs1057516600(G;G)
Alt	rs1057516600(G;G)
Reference	Rs1057516600(A;A)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78081615A>G
CLNSRC
CLNACC	RCV000410689.1,