rs1057516598

Orientation

minus

Stabilized

minus

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

Make rs1057516598(A;A)

Make rs1057516598(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

64750584

Gene

PYGM

is a	snp
is	mentioned by
dbSNP	rs1057516598
dbSNP (classic)	rs1057516598
ClinGen	rs1057516598
ebi	rs1057516598
HLI	rs1057516598
Exac	rs1057516598
Gnomad	rs1057516598
Varsome	rs1057516598
LitVar	rs1057516598
Map	rs1057516598
PheGenI	rs1057516598
Biobank	rs1057516598
1000 genomes	rs1057516598
hgdp	rs1057516598
ensembl	rs1057516598
geneview	rs1057516598
scholar	rs1057516598
google	rs1057516598
pharmgkb	rs1057516598
gwascentral	rs1057516598
openSNP	rs1057516598
23andMe	rs1057516598
SNPshot	rs1057516598
SNPdbe	rs1057516598
MSV3d	rs1057516598
GWAS Ctlg	rs1057516598

Max Magnitude

0

ClinVar
Risk	rs1057516598(A;A)
Alt	rs1057516598(A;A)
Reference	Rs1057516598(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.64518056C>T
CLNSRC
CLNACC	RCV000410171.1,