rs28937909

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	Carrier of a glycogen storage disease II mutation
(G;G)	0	common in clinvar

Make rs28937909(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

80112914

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs28937909
dbSNP (classic)	rs28937909
ClinGen	rs28937909
ebi	rs28937909
HLI	rs28937909
Exac	rs28937909
Gnomad	rs28937909
Varsome	rs28937909
LitVar	rs28937909
Map	rs28937909
PheGenI	rs28937909
Biobank	rs28937909
1000 genomes	rs28937909
hgdp	rs28937909
ensembl	rs28937909
geneview	rs28937909
scholar	rs28937909
google	rs28937909
pharmgkb	rs28937909
gwascentral	rs28937909
openSNP	rs28937909
23andMe	rs28937909
SNPshot	rs28937909
SNPdbe	rs28937909
MSV3d	rs28937909
GWAS Ctlg	rs28937909

Max Magnitude

3

OMIM	606800
Desc	GLYCOGEN STORAGE DISEASE II, ADULT FORM
Variant	0004
Related	also

ClinVar
Risk	rs28937909(A;A) rs28937909(T;T)
Alt	rs28937909(A;A) rs28937909(T;T)
Reference	Rs28937909(G;G)
Significance	Pathogenic
Disease	Glycogen storage disease II Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease II, adult form Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78086713G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004238.4, RCV000409137.1,