rs1057517442

Orientation

minus

Stabilized

minus

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

Make rs1057517442(C;C)

Make rs1057517442(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

64751596

Gene

PYGM

is a	snp
is	mentioned by
dbSNP	rs1057517442
dbSNP (classic)	rs1057517442
ClinGen	rs1057517442
ebi	rs1057517442
HLI	rs1057517442
Exac	rs1057517442
Gnomad	rs1057517442
Varsome	rs1057517442
LitVar	rs1057517442
Map	rs1057517442
PheGenI	rs1057517442
Biobank	rs1057517442
1000 genomes	rs1057517442
hgdp	rs1057517442
ensembl	rs1057517442
geneview	rs1057517442
scholar	rs1057517442
google	rs1057517442
pharmgkb	rs1057517442
gwascentral	rs1057517442
openSNP	rs1057517442
23andMe	rs1057517442
SNPshot	rs1057517442
SNPdbe	rs1057517442
MSV3d	rs1057517442
GWAS Ctlg	rs1057517442

Max Magnitude

0

ClinVar
Risk	rs1057517442(C;C)
Alt	rs1057517442(C;C)
Reference	Rs1057517442(G;G)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	PYGM
CLNDBN	Glycogen storage disease, type V
Reversed	1
HGVS	NC_000011.9:g.64519068C>G
CLNSRC
CLNACC	RCV000409723.1,