rs1042395

Orientation

plus

Stabilized

plus

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

Make rs1042395(A;A)

Make rs1042395(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

80105870

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1042395
dbSNP (classic)	rs1042395
ClinGen	rs1042395
ebi	rs1042395
HLI	rs1042395
Exac	rs1042395
Gnomad	rs1042395
Varsome	rs1042395
LitVar	rs1042395
Map	rs1042395
PheGenI	rs1042395
Biobank	rs1042395
1000 genomes	rs1042395
hgdp	rs1042395
ensembl	rs1042395
geneview	rs1042395
scholar	rs1042395
google	rs1042395
pharmgkb	rs1042395
gwascentral	rs1042395
openSNP	rs1042395
23andMe	rs1042395
SNPshot	rs1042395
SNPdbe	rs1042395
MSV3d	rs1042395
GWAS Ctlg	rs1042395

Merged from

Rs11150843

GMAF

0.3866

Max Magnitude

0

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

ClinVar
Risk	rs1042395(A;A)
Alt	rs1042395(A;A)
Reference	Rs1042395(G;G)
Significance	Other
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.78079669G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000078185.6, RCV000169616.2,