rs121907941

Orientation

plus

Stabilized

plus

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

Make rs121907941(GT;GT)

Make rs121907941(GT;TC)

Reference

GRCh38 38.1/141

Chromosome

17

Position

80110974

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs121907941
dbSNP (classic)	rs121907941
ClinGen	rs121907941
ebi	rs121907941
HLI	rs121907941
Exac	rs121907941
Gnomad	rs121907941
Varsome	rs121907941
LitVar	rs121907941
Map	rs121907941
PheGenI	rs121907941
Biobank	rs121907941
1000 genomes	rs121907941
hgdp	rs121907941
ensembl	rs121907941
geneview	rs121907941
scholar	rs121907941
google	rs121907941
pharmgkb	rs121907941
gwascentral	rs121907941
openSNP	rs121907941
23andMe	rs121907941
SNPshot	rs121907941
SNPdbe	rs121907941
MSV3d	rs121907941
GWAS Ctlg	rs121907941

Max Magnitude

0

OMIM	606800
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121907941(GT;GT)
Alt	rs121907941(GT;GT)
Reference	Rs121907941(TC;TC)
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.78084773_78084774delTCinsGT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004241.3,