rs121907942

Orientation

plus

Stabilized

plus

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

Make rs121907942(C;T)

Make rs121907942(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

80111023

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs121907942
dbSNP (classic)	rs121907942
ClinGen	rs121907942
ebi	rs121907942
HLI	rs121907942
Exac	rs121907942
Gnomad	rs121907942
Varsome	rs121907942
LitVar	rs121907942
Map	rs121907942
PheGenI	rs121907942
Biobank	rs121907942
1000 genomes	rs121907942
hgdp	rs121907942
ensembl	rs121907942
geneview	rs121907942
scholar	rs121907942
google	rs121907942
pharmgkb	rs121907942
gwascentral	rs121907942
openSNP	rs121907942
23andMe	rs121907942
SNPshot	rs121907942
SNPdbe	rs121907942
MSV3d	rs121907942
GWAS Ctlg	rs121907942

Max Magnitude

0

OMIM	606800
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121907942(T;T)
Alt	rs121907942(T;T)
Reference	Rs121907942(C;C)
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.78084822C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004247.3,