rs1057516349

Orientation

minus

Stabilized

minus

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

Make rs1057516349(A;A)

Make rs1057516349(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

64759695

Gene

PYGM

is a	snp
is	mentioned by
dbSNP	rs1057516349
dbSNP (classic)	rs1057516349
ClinGen	rs1057516349
ebi	rs1057516349
HLI	rs1057516349
Exac	rs1057516349
Gnomad	rs1057516349
Varsome	rs1057516349
LitVar	rs1057516349
Map	rs1057516349
PheGenI	rs1057516349
Biobank	rs1057516349
1000 genomes	rs1057516349
hgdp	rs1057516349
ensembl	rs1057516349
geneview	rs1057516349
scholar	rs1057516349
google	rs1057516349
pharmgkb	rs1057516349
gwascentral	rs1057516349
openSNP	rs1057516349
23andMe	rs1057516349
SNPshot	rs1057516349
SNPdbe	rs1057516349
MSV3d	rs1057516349
GWAS Ctlg	rs1057516349

Max Magnitude

0

ClinVar
Risk	rs1057516349(A;A)
Alt	rs1057516349(A;A)
Reference	Rs1057516349(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.64527167C>T
CLNSRC
CLNACC	RCV000411559.1,