rs1057516329

Orientation

minus

Stabilized

minus

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

Make rs1057516329(-;-)

Make rs1057516329(-;ACTACCTGTCT)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

64758687

Gene

PYGM

is a	snp
is	mentioned by
dbSNP	rs1057516329
dbSNP (classic)	rs1057516329
ClinGen	rs1057516329
ebi	rs1057516329
HLI	rs1057516329
Exac	rs1057516329
Gnomad	rs1057516329
Varsome	rs1057516329
LitVar	rs1057516329
Map	rs1057516329
PheGenI	rs1057516329
Biobank	rs1057516329
1000 genomes	rs1057516329
hgdp	rs1057516329
ensembl	rs1057516329
geneview	rs1057516329
scholar	rs1057516329
google	rs1057516329
pharmgkb	rs1057516329
gwascentral	rs1057516329
openSNP	rs1057516329
23andMe	rs1057516329
SNPshot	rs1057516329
SNPdbe	rs1057516329
MSV3d	rs1057516329
GWAS Ctlg	rs1057516329

Max Magnitude

0

ClinVar
Risk	rs1057516329(-;-)
Alt	rs1057516329(-;-)
Reference	Rs1057516329(ACTACCTGTCT;ACTACCTGTCT)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	PYGM
CLNDBN	Glycogen storage disease, type V
Reversed	1
HGVS	NC_000011.9:g.64526159_64526169delAGACAGGTAGT
CLNSRC
CLNACC	RCV000412395.1,