rs121907937

Orientation

plus

Stabilized

plus

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

Make rs121907937(A;A)

Make rs121907937(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

80110950

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs121907937
dbSNP (classic)	rs121907937
ClinGen	rs121907937
ebi	rs121907937
HLI	rs121907937
Exac	rs121907937
Gnomad	rs121907937
Varsome	rs121907937
LitVar	rs121907937
Map	rs121907937
PheGenI	rs121907937
Biobank	rs121907937
1000 genomes	rs121907937
hgdp	rs121907937
ensembl	rs121907937
geneview	rs121907937
scholar	rs121907937
google	rs121907937
pharmgkb	rs121907937
gwascentral	rs121907937
openSNP	rs121907937
23andMe	rs121907937
SNPshot	rs121907937
SNPdbe	rs121907937
MSV3d	rs121907937
GWAS Ctlg	rs121907937

Max Magnitude

0

OMIM	606800
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121907937(A;A)
Alt	rs121907937(A;A)
Reference	Rs121907937(G;G)
Significance	Pathogenic
Disease	Glycogen storage disease type II Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease type II, infantile Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78084749G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004237.3, RCV000169465.1,