rs397514631

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

11

Position

64759747

Gene

PYGM

is a	snp
is	mentioned by
dbSNP	rs397514631
dbSNP (classic)	rs397514631
ClinGen	rs397514631
ebi	rs397514631
HLI	rs397514631
Exac	rs397514631
Gnomad	rs397514631
Varsome	rs397514631
LitVar	rs397514631
Map	rs397514631
PheGenI	rs397514631
Biobank	rs397514631
1000 genomes	rs397514631
hgdp	rs397514631
ensembl	rs397514631
geneview	rs397514631
scholar	rs397514631
google	rs397514631
pharmgkb	rs397514631
gwascentral	rs397514631
openSNP	rs397514631
23andMe	rs397514631
SNPshot	rs397514631
SNPdbe	rs397514631
MSV3d	rs397514631
GWAS Ctlg	rs397514631

Max Magnitude

5

ClinVar
Risk	Rs397514631(G;G)
Alt	Rs397514631(G;G)
Reference	Rs397514631(A;A)
Significance	Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	PYGM
CLNDBN	Glycogen storage disease, type V
Reversed	1
HGVS	NC_000011.9:g.64527219T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033140.4,