rs398123169

Orientation

plus

Stabilized

plus

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

Make rs398123169(A;A)

Make rs398123169(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

80110754

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs398123169
dbSNP (classic)	rs398123169
ClinGen	rs398123169
ebi	rs398123169
HLI	rs398123169
Exac	rs398123169
Gnomad	rs398123169
Varsome	rs398123169
LitVar	rs398123169
Map	rs398123169
PheGenI	rs398123169
Biobank	rs398123169
1000 genomes	rs398123169
hgdp	rs398123169
ensembl	rs398123169
geneview	rs398123169
scholar	rs398123169
google	rs398123169
pharmgkb	rs398123169
gwascentral	rs398123169
openSNP	rs398123169
23andMe	rs398123169
SNPshot	rs398123169
SNPdbe	rs398123169
MSV3d	rs398123169
GWAS Ctlg	rs398123169

Max Magnitude

0

ClinVar
Risk	rs398123169(A;A)
Alt	rs398123169(A;A)
Reference	Rs398123169(G;G)
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.78084553G>A
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000078159.3, RCV000173646.1,