rs121907940

Orientation

plus

Stabilized

plus

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

Make rs121907940(G;G)

Make rs121907940(G;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

80107837

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs121907940
dbSNP (classic)	rs121907940
ClinGen	rs121907940
ebi	rs121907940
HLI	rs121907940
Exac	rs121907940
Gnomad	rs121907940
Varsome	rs121907940
LitVar	rs121907940
Map	rs121907940
PheGenI	rs121907940
Biobank	rs121907940
1000 genomes	rs121907940
hgdp	rs121907940
ensembl	rs121907940
geneview	rs121907940
scholar	rs121907940
google	rs121907940
pharmgkb	rs121907940
gwascentral	rs121907940
openSNP	rs121907940
23andMe	rs121907940
SNPshot	rs121907940
SNPdbe	rs121907940
MSV3d	rs121907940
GWAS Ctlg	rs121907940

Max Magnitude

0

OMIM	606800
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121907940(C;C) rs121907940(G;G)
Alt	rs121907940(C;C) rs121907940(G;G)
Reference	Rs121907940(T;T)
Significance	Pathogenic
Disease	Glycogen storage disease Glycogen storage disease type II
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease, type II Glycogen storage disease type II, infantile
Reversed	0
HGVS	NC_000017.10:g.78081636T>C; NC_000017.10:g.78081636T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000156941.1, RCV000004240.2,