rs121907938

Orientation

plus

Stabilized

plus

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

Make rs121907938(C;T)

Make rs121907938(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

80113350

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs121907938
dbSNP (classic)	rs121907938
ClinGen	rs121907938
ebi	rs121907938
HLI	rs121907938
Exac	rs121907938
Gnomad	rs121907938
Varsome	rs121907938
LitVar	rs121907938
Map	rs121907938
PheGenI	rs121907938
Biobank	rs121907938
1000 genomes	rs121907938
hgdp	rs121907938
ensembl	rs121907938
geneview	rs121907938
scholar	rs121907938
google	rs121907938
pharmgkb	rs121907938
gwascentral	rs121907938
openSNP	rs121907938
23andMe	rs121907938
SNPshot	rs121907938
SNPdbe	rs121907938
MSV3d	rs121907938
GWAS Ctlg	rs121907938

Merged from

Rs28939100

Max Magnitude

0

OMIM	606800
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121907938(T;T)
Alt	rs121907938(T;T)
Reference	Rs121907938(C;C)
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.78087149C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004239.2, RCV000169045.1,