rs527236147

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;GAA)	3	Carrier of a McArdle disease mutation
(GAA;GAA)	0	common in clinvar

Make rs527236147(-;-)

Reference

GRCh38 38.1/142

Chromosome

11

Position

64750423

Gene

PYGM

is a	snp
is	mentioned by
dbSNP	rs527236147
dbSNP (classic)	rs527236147
ClinGen	rs527236147
ebi	rs527236147
HLI	rs527236147
Exac	rs527236147
Gnomad	rs527236147
Varsome	rs527236147
LitVar	rs527236147
Map	rs527236147
PheGenI	rs527236147
Biobank	rs527236147
1000 genomes	rs527236147
hgdp	rs527236147
ensembl	rs527236147
geneview	rs527236147
scholar	rs527236147
google	rs527236147
pharmgkb	rs527236147
gwascentral	rs527236147
openSNP	rs527236147
23andMe	rs527236147
SNPshot	rs527236147
SNPdbe	rs527236147
MSV3d	rs527236147
GWAS Ctlg	rs527236147

Max Magnitude

3

ClinVar
Risk	rs527236147(-;-)
Alt	rs527236147(-;-)
Reference	Rs527236147(GAA;GAA)
Significance	Other
Disease	Glycogen storage disease
Variation	info
Gene	PYGM
CLNDBN	Glycogen storage disease, type V
Reversed	0
HGVS	NC_000011.9:g.64517895_64517897delGAA
CLNSRC	ClinVar
CLNACC	RCV000128553.4,