rs1057516189

Orientation

plus

Stabilized

plus

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

Make rs1057516189(-;CAGAAGGTGACTG)

Make rs1057516189(CAGAAGGTGACTG;CAGAAGGTGACTG)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80118722

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057516189
dbSNP (classic)	rs1057516189
ClinGen	rs1057516189
ebi	rs1057516189
HLI	rs1057516189
Exac	rs1057516189
Gnomad	rs1057516189
Varsome	rs1057516189
LitVar	rs1057516189
Map	rs1057516189
PheGenI	rs1057516189
Biobank	rs1057516189
1000 genomes	rs1057516189
hgdp	rs1057516189
ensembl	rs1057516189
geneview	rs1057516189
scholar	rs1057516189
google	rs1057516189
pharmgkb	rs1057516189
gwascentral	rs1057516189
openSNP	rs1057516189
23andMe	rs1057516189
SNPshot	rs1057516189
SNPdbe	rs1057516189
MSV3d	rs1057516189
GWAS Ctlg	rs1057516189

Max Magnitude

0

ClinVar
Risk	rs1057516189(CTGCAGAAGGTGA;CTGCAGAAGGTGA)
Alt	rs1057516189(CTGCAGAAGGTGA;CTGCAGAAGGTGA)
Reference	Rs1057516189(-;-)
Significance	Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78092509_78092521dupCAGAAGGTGACTG
CLNSRC
CLNACC	RCV000408809.1,