rs369532274

Orientation

plus

Stabilized

plus

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

Make rs369532274(C;T)

Make rs369532274(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

80118223

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs369532274
dbSNP (classic)	rs369532274
ClinGen	rs369532274
ebi	rs369532274
HLI	rs369532274
Exac	rs369532274
Gnomad	rs369532274
Varsome	rs369532274
LitVar	rs369532274
Map	rs369532274
PheGenI	rs369532274
Biobank	rs369532274
1000 genomes	rs369532274
hgdp	rs369532274
ensembl	rs369532274
geneview	rs369532274
scholar	rs369532274
google	rs369532274
pharmgkb	rs369532274
gwascentral	rs369532274
openSNP	rs369532274
23andMe	rs369532274
SNPshot	rs369532274
SNPdbe	rs369532274
MSV3d	rs369532274
GWAS Ctlg	rs369532274

Max Magnitude

0

ClinVar
Risk	rs369532274(T;T)
Alt	rs369532274(T;T)
Reference	Rs369532274(C;C)
Significance	Pathogenic
Disease	not provided Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	not provided Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78092022C>T
CLNSRC	ClinVar Emory University
CLNACC	RCV000078174.3, RCV000175263.2,