rs1057517145

Orientation

minus

Stabilized

minus

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

Make rs1057517145(C;G)

Make rs1057517145(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

64758696

Gene

PYGM

is a	snp
is	mentioned by
dbSNP	rs1057517145
dbSNP (classic)	rs1057517145
ClinGen	rs1057517145
ebi	rs1057517145
HLI	rs1057517145
Exac	rs1057517145
Gnomad	rs1057517145
Varsome	rs1057517145
LitVar	rs1057517145
Map	rs1057517145
PheGenI	rs1057517145
Biobank	rs1057517145
1000 genomes	rs1057517145
hgdp	rs1057517145
ensembl	rs1057517145
geneview	rs1057517145
scholar	rs1057517145
google	rs1057517145
pharmgkb	rs1057517145
gwascentral	rs1057517145
openSNP	rs1057517145
23andMe	rs1057517145
SNPshot	rs1057517145
SNPdbe	rs1057517145
MSV3d	rs1057517145
GWAS Ctlg	rs1057517145

Max Magnitude

0

ClinVar
Risk	rs1057517145(G;G)
Alt	rs1057517145(G;G)
Reference	Rs1057517145(C;C)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	PYGM
CLNDBN	Glycogen storage disease, type V
Reversed	1
HGVS	NC_000011.9:g.64526168G>C
CLNSRC
CLNACC	RCV000412392.1,