rs1800309

Orientation

plus

Stabilized

plus

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

Make rs1800309(A;A)

Make rs1800309(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

80113242

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1800309
dbSNP (classic)	rs1800309
ClinGen	rs1800309
ebi	rs1800309
HLI	rs1800309
Exac	rs1800309
Gnomad	rs1800309
Varsome	rs1800309
LitVar	rs1800309
Map	rs1800309
PheGenI	rs1800309
Biobank	rs1800309
1000 genomes	rs1800309
hgdp	rs1800309
ensembl	rs1800309
geneview	rs1800309
scholar	rs1800309
google	rs1800309
pharmgkb	rs1800309
gwascentral	rs1800309
openSNP	rs1800309
23andMe	rs1800309
SNPshot	rs1800309
SNPdbe	rs1800309
MSV3d	rs1800309
GWAS Ctlg	rs1800309

GMAF

0.09045

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

OMIM	606800
Desc	ACID ALPHA-GLUCOSIDASE, ALLELE 4
Variant	0011
Related	also

ClinVar
Risk	rs1800309(A;A)
Alt	rs1800309(A;A)
Reference	Rs1800309(G;G)
Significance	Other
Disease	Acid alpha-glucosidase not specified Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	Acid alpha-glucosidase, allele 4 not specified Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78087041G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004245.1, RCV000078165.9, RCV000383641.1,