rs1057516468

Orientation

minus

Stabilized

minus

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

Make rs1057516468(G;G)

Make rs1057516468(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

64758244

Gene

PYGM

is a	snp
is	mentioned by
dbSNP	rs1057516468
dbSNP (classic)	rs1057516468
ClinGen	rs1057516468
ebi	rs1057516468
HLI	rs1057516468
Exac	rs1057516468
Gnomad	rs1057516468
Varsome	rs1057516468
LitVar	rs1057516468
Map	rs1057516468
PheGenI	rs1057516468
Biobank	rs1057516468
1000 genomes	rs1057516468
hgdp	rs1057516468
ensembl	rs1057516468
geneview	rs1057516468
scholar	rs1057516468
google	rs1057516468
pharmgkb	rs1057516468
gwascentral	rs1057516468
openSNP	rs1057516468
23andMe	rs1057516468
SNPshot	rs1057516468
SNPdbe	rs1057516468
MSV3d	rs1057516468
GWAS Ctlg	rs1057516468

Max Magnitude

0

ClinVar
Risk	rs1057516468(G;G)
Alt	rs1057516468(G;G)
Reference	Rs1057516468(T;T)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	PYGM
CLNDBN	Glycogen storage disease, type V
Reversed	1
HGVS	NC_000011.9:g.64525716A>C
CLNSRC
CLNACC	RCV000410907.1,