rs1057516924

Orientation

plus

Stabilized

plus

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

Make rs1057516924(AT;AT)

Make rs1057516924(AT;G)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80117059

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057516924
dbSNP (classic)	rs1057516924
ClinGen	rs1057516924
ebi	rs1057516924
HLI	rs1057516924
Exac	rs1057516924
Gnomad	rs1057516924
Varsome	rs1057516924
LitVar	rs1057516924
Map	rs1057516924
PheGenI	rs1057516924
Biobank	rs1057516924
1000 genomes	rs1057516924
hgdp	rs1057516924
ensembl	rs1057516924
geneview	rs1057516924
scholar	rs1057516924
google	rs1057516924
pharmgkb	rs1057516924
gwascentral	rs1057516924
openSNP	rs1057516924
23andMe	rs1057516924
SNPshot	rs1057516924
SNPdbe	rs1057516924
MSV3d	rs1057516924
GWAS Ctlg	rs1057516924

Max Magnitude

0

ClinVar
Risk	rs1057516924(AT;AT)
Alt	rs1057516924(AT;AT)
Reference	Rs1057516924(G;G)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78090858delGinsAT
CLNSRC
CLNACC	RCV000411398.1,