rs1057517165

Orientation

plus

Stabilized

plus

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

Make rs1057517165(-;-)

Make rs1057517165(-;CCACACAGTGC)

Make rs1057517165(CCACACAGTGC;CCACACAGTGC)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80104822

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057517165
dbSNP (classic)	rs1057517165
ClinGen	rs1057517165
ebi	rs1057517165
HLI	rs1057517165
Exac	rs1057517165
Gnomad	rs1057517165
Varsome	rs1057517165
LitVar	rs1057517165
Map	rs1057517165
PheGenI	rs1057517165
Biobank	rs1057517165
1000 genomes	rs1057517165
hgdp	rs1057517165
ensembl	rs1057517165
geneview	rs1057517165
scholar	rs1057517165
google	rs1057517165
pharmgkb	rs1057517165
gwascentral	rs1057517165
openSNP	rs1057517165
23andMe	rs1057517165
SNPshot	rs1057517165
SNPdbe	rs1057517165
MSV3d	rs1057517165
GWAS Ctlg	rs1057517165

Max Magnitude

0

ClinVar
Risk	rs1057517165(-;-)
Alt	rs1057517165(-;-)
Reference	Rs1057517165(CAGTGCCCACA;CAGTGCCCACA)
Significance	Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78078621_78078631delCCACACAGTGC
CLNSRC
CLNACC	RCV000409689.1,