rs1042393

Orientation

plus

Stabilized

plus

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

Make rs1042393(A;G)

Make rs1042393(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

80105798

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1042393
dbSNP (classic)	rs1042393
ClinGen	rs1042393
ebi	rs1042393
HLI	rs1042393
Exac	rs1042393
Gnomad	rs1042393
Varsome	rs1042393
LitVar	rs1042393
Map	rs1042393
PheGenI	rs1042393
Biobank	rs1042393
1000 genomes	rs1042393
hgdp	rs1042393
ensembl	rs1042393
geneview	rs1042393
scholar	rs1042393
google	rs1042393
pharmgkb	rs1042393
gwascentral	rs1042393
openSNP	rs1042393
23andMe	rs1042393
SNPshot	rs1042393
SNPdbe	rs1042393
MSV3d	rs1042393
GWAS Ctlg	rs1042393

GMAF

0.382

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	rs1042393(G;G)
Alt	rs1042393(G;G)
Reference	Rs1042393(A;A)
Significance	Non-pathogenic
Disease	not specified Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	not specified Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78079597A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000078183.6, RCV000275148.1,