rs1057516277

Orientation

plus

Stabilized

plus

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

Make rs1057516277(C;T)

Make rs1057516277(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80117005

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057516277
dbSNP (classic)	rs1057516277
ClinGen	rs1057516277
ebi	rs1057516277
HLI	rs1057516277
Exac	rs1057516277
Gnomad	rs1057516277
Varsome	rs1057516277
LitVar	rs1057516277
Map	rs1057516277
PheGenI	rs1057516277
Biobank	rs1057516277
1000 genomes	rs1057516277
hgdp	rs1057516277
ensembl	rs1057516277
geneview	rs1057516277
scholar	rs1057516277
google	rs1057516277
pharmgkb	rs1057516277
gwascentral	rs1057516277
openSNP	rs1057516277
23andMe	rs1057516277
SNPshot	rs1057516277
SNPdbe	rs1057516277
MSV3d	rs1057516277
GWAS Ctlg	rs1057516277

Max Magnitude

0

ClinVar
Risk	rs1057516277(T;T)
Alt	rs1057516277(T;T)
Reference	Rs1057516277(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.78090804C>T
CLNSRC
CLNACC	RCV000410278.1,