rs1057517148

Orientation

plus

Stabilized

plus

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

Make rs1057517148(A;A)

Make rs1057517148(A;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80117111

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057517148
dbSNP (classic)	rs1057517148
ClinGen	rs1057517148
ebi	rs1057517148
HLI	rs1057517148
Exac	rs1057517148
Gnomad	rs1057517148
Varsome	rs1057517148
LitVar	rs1057517148
Map	rs1057517148
PheGenI	rs1057517148
Biobank	rs1057517148
1000 genomes	rs1057517148
hgdp	rs1057517148
ensembl	rs1057517148
geneview	rs1057517148
scholar	rs1057517148
google	rs1057517148
pharmgkb	rs1057517148
gwascentral	rs1057517148
openSNP	rs1057517148
23andMe	rs1057517148
SNPshot	rs1057517148
SNPdbe	rs1057517148
MSV3d	rs1057517148
GWAS Ctlg	rs1057517148

Max Magnitude

0

ClinVar
Risk	rs1057517148(A;A)
Alt	rs1057517148(A;A)
Reference	Rs1057517148(T;T)
Significance	Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78090910T>A
CLNSRC
CLNACC	RCV000411608.1,