rs121907945

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 rs121907945(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

80107818

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs121907945
dbSNP (classic)	rs121907945
ClinGen	rs121907945
ebi	rs121907945
HLI	rs121907945
Exac	rs121907945
Gnomad	rs121907945
Varsome	rs121907945
LitVar	rs121907945
Map	rs121907945
PheGenI	rs121907945
Biobank	rs121907945
1000 genomes	rs121907945
hgdp	rs121907945
ensembl	rs121907945
geneview	rs121907945
scholar	rs121907945
google	rs121907945
pharmgkb	rs121907945
gwascentral	rs121907945
openSNP	rs121907945
23andMe	rs121907945
SNPshot	rs121907945
SNPdbe	rs121907945
MSV3d	rs121907945
GWAS Ctlg	rs121907945

Max Magnitude

3

OMIM	606800
Desc
Variant	0017
Related	also

ClinVar
Risk	rs121907945(A;A)
Alt	rs121907945(A;A)
Reference	Rs121907945(G;G)
Significance	Pathogenic
Disease	Glycogen storage disease II
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease II, adult form
Reversed	0
HGVS	NC_000017.10:g.78081617G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004251.2,