rs121907939

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;AAG)	3	Carrier of a glycogen storage disease II mutation
(AAG;AAG)	0	common in clinvar
(AGA;AGA)	0	common in clinvar
(I;I)	0	common genotype

Make rs121907939(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

80118713

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs121907939
dbSNP (classic)	rs121907939
ClinGen	rs121907939
ebi	rs121907939
HLI	rs121907939
Exac	rs121907939
Gnomad	rs121907939
Varsome	rs121907939
LitVar	rs121907939
Map	rs121907939
PheGenI	rs121907939
Biobank	rs121907939
1000 genomes	rs121907939
hgdp	rs121907939
ensembl	rs121907939
geneview	rs121907939
scholar	rs121907939
google	rs121907939
pharmgkb	rs121907939
gwascentral	rs121907939
openSNP	rs121907939
23andMe	rs121907939
SNPshot	rs121907939
SNPdbe	rs121907939
MSV3d	rs121907939
GWAS Ctlg	rs121907939

Max Magnitude

3

OMIM	606800
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121907939(-;-)
Alt	rs121907939(-;-)
Reference	Rs121907939(AGA;AGA)
Significance	Pathogenic
Disease	Glycogen storage disease type II
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease type II, infantile
Reversed	0
HGVS	NC_000017.10:g.78092512_78092514delAAG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004243.2,