rs1057517361

Orientation

minus

Stabilized

minus

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

Make rs1057517361(C;T)

Make rs1057517361(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

64759682

Gene

PYGM

is a	snp
is	mentioned by
dbSNP	rs1057517361
dbSNP (classic)	rs1057517361
ClinGen	rs1057517361
ebi	rs1057517361
HLI	rs1057517361
Exac	rs1057517361
Gnomad	rs1057517361
Varsome	rs1057517361
LitVar	rs1057517361
Map	rs1057517361
PheGenI	rs1057517361
Biobank	rs1057517361
1000 genomes	rs1057517361
hgdp	rs1057517361
ensembl	rs1057517361
geneview	rs1057517361
scholar	rs1057517361
google	rs1057517361
pharmgkb	rs1057517361
gwascentral	rs1057517361
openSNP	rs1057517361
23andMe	rs1057517361
SNPshot	rs1057517361
SNPdbe	rs1057517361
MSV3d	rs1057517361
GWAS Ctlg	rs1057517361

Max Magnitude

0

ClinVar
Risk	rs1057517361(T;T)
Alt	rs1057517361(T;T)
Reference	Rs1057517361(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.64527154G>A
CLNSRC
CLNACC	RCV000409722.1,