rs1055945806

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80104552

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1055945806
dbSNP (classic)	rs1055945806
ClinGen	rs1055945806
ebi	rs1055945806
HLI	rs1055945806
Exac	rs1055945806
Gnomad	rs1055945806
Varsome	rs1055945806
LitVar	rs1055945806
Map	rs1055945806
PheGenI	rs1055945806
Biobank	rs1055945806
1000 genomes	rs1055945806
hgdp	rs1055945806
ensembl	rs1055945806
geneview	rs1055945806
scholar	rs1055945806
google	rs1055945806
pharmgkb	rs1055945806
gwascentral	rs1055945806
openSNP	rs1055945806
23andMe	rs1055945806
SNPshot	rs1055945806
SNPdbe	rs1055945806
MSV3d	rs1055945806
GWAS Ctlg	rs1055945806

Max Magnitude

0

ClinVar
Risk	rs1055945806(A;A)
Alt	rs1055945806(A;A)
Reference	Rs1055945806(C;C)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene
CLNDBN	Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78078351C>A
CLNSRC
CLNACC	RCV000412452.1,