rs1057517320

Orientation

plus

Stabilized

plus

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

Make rs1057517320(-;-)

Make rs1057517320(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80105057

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057517320
dbSNP (classic)	rs1057517320
ClinGen	rs1057517320
ebi	rs1057517320
HLI	rs1057517320
Exac	rs1057517320
Gnomad	rs1057517320
Varsome	rs1057517320
LitVar	rs1057517320
Map	rs1057517320
PheGenI	rs1057517320
Biobank	rs1057517320
1000 genomes	rs1057517320
hgdp	rs1057517320
ensembl	rs1057517320
geneview	rs1057517320
scholar	rs1057517320
google	rs1057517320
pharmgkb	rs1057517320
gwascentral	rs1057517320
openSNP	rs1057517320
23andMe	rs1057517320
SNPshot	rs1057517320
SNPdbe	rs1057517320
MSV3d	rs1057517320
GWAS Ctlg	rs1057517320

Max Magnitude

0

ClinVar
Risk	rs1057517320(-;-)
Alt	rs1057517320(-;-)
Reference	Rs1057517320(C;C)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78078856delC
CLNSRC
CLNACC	RCV000411817.1,