rs527236146

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	3	Carrier of a McArdle disease mutation
(T;T)	5	McArdle disease (also known as glycogen storage disease type V)

Reference

GRCh38 38.1/142

Chromosome

11

Position

64758693

Gene

PYGM

is a	snp
is	mentioned by
dbSNP	rs527236146
dbSNP (classic)	rs527236146
ClinGen	rs527236146
ebi	rs527236146
HLI	rs527236146
Exac	rs527236146
Gnomad	rs527236146
Varsome	rs527236146
LitVar	rs527236146
Map	rs527236146
PheGenI	rs527236146
Biobank	rs527236146
1000 genomes	rs527236146
hgdp	rs527236146
ensembl	rs527236146
geneview	rs527236146
scholar	rs527236146
google	rs527236146
pharmgkb	rs527236146
gwascentral	rs527236146
openSNP	rs527236146
23andMe	rs527236146
SNPshot	rs527236146
SNPdbe	rs527236146
MSV3d	rs527236146
GWAS Ctlg	rs527236146

Max Magnitude

5

ClinVar
Risk	Rs527236146(T;T)
Alt	Rs527236146(T;T)
Reference	Rs527236146(G;G)
Significance	Other
Disease	Glycogen storage disease
Variation	info
Gene	PYGM
CLNDBN	Glycogen storage disease, type V
Reversed	0
HGVS	NC_000011.9:g.64526165G>T
CLNSRC	ClinVar
CLNACC	RCV000128551.4,