rs398123172

Orientation

plus

Stabilized

plus

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

Make rs398123172(G;T)

Make rs398123172(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

80113282

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs398123172
dbSNP (classic)	rs398123172
ClinGen	rs398123172
ebi	rs398123172
HLI	rs398123172
Exac	rs398123172
Gnomad	rs398123172
Varsome	rs398123172
LitVar	rs398123172
Map	rs398123172
PheGenI	rs398123172
Biobank	rs398123172
1000 genomes	rs398123172
hgdp	rs398123172
ensembl	rs398123172
geneview	rs398123172
scholar	rs398123172
google	rs398123172
pharmgkb	rs398123172
gwascentral	rs398123172
openSNP	rs398123172
23andMe	rs398123172
SNPshot	rs398123172
SNPdbe	rs398123172
MSV3d	rs398123172
GWAS Ctlg	rs398123172

Max Magnitude

0

ClinVar
Risk	rs398123172(A;A) rs398123172(T;T)
Alt	rs398123172(A;A) rs398123172(T;T)
Reference	Rs398123172(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.78087081G>A; NC_000017.10:g.78087081G>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000489782.1, RCV000078167.3, RCV000174831.1,