rs398123174

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;T)	3	Carrier of a glycogen storage disease II mutation
(T;T)	0	common in clinvar

Make rs398123174(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

80104893

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs398123174
dbSNP (classic)	rs398123174
ClinGen	rs398123174
ebi	rs398123174
HLI	rs398123174
Exac	rs398123174
Gnomad	rs398123174
Varsome	rs398123174
LitVar	rs398123174
Map	rs398123174
PheGenI	rs398123174
Biobank	rs398123174
1000 genomes	rs398123174
hgdp	rs398123174
ensembl	rs398123174
geneview	rs398123174
scholar	rs398123174
google	rs398123174
pharmgkb	rs398123174
gwascentral	rs398123174
openSNP	rs398123174
23andMe	rs398123174
SNPshot	rs398123174
SNPdbe	rs398123174
MSV3d	rs398123174
GWAS Ctlg	rs398123174

Max Magnitude

3

ClinVar
Risk	rs398123174(G;G)
Alt	rs398123174(G;G)
Reference	Rs398123174(T;T)
Significance	Pathogenic
Disease	not provided Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	not provided Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78078692T>G
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000078179.3, RCV000175529.1,