rs119103253

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

11

Position

64751331

Gene

PYGM

is a	snp
is	mentioned by
dbSNP	rs119103253
dbSNP (classic)	rs119103253
ClinGen	rs119103253
ebi	rs119103253
HLI	rs119103253
Exac	rs119103253
Gnomad	rs119103253
Varsome	rs119103253
LitVar	rs119103253
Map	rs119103253
PheGenI	rs119103253
Biobank	rs119103253
1000 genomes	rs119103253
hgdp	rs119103253
ensembl	rs119103253
geneview	rs119103253
scholar	rs119103253
google	rs119103253
pharmgkb	rs119103253
gwascentral	rs119103253
openSNP	rs119103253
23andMe	rs119103253
SNPshot	rs119103253
SNPdbe	rs119103253
MSV3d	rs119103253
GWAS Ctlg	rs119103253

Max Magnitude

5

PYGM gene, c.1963G>A, p.Glu655Lys or E655K

23andMe name: i5005801

OMIM	608455
Desc
Variant	0005
Related	also

ClinVar
Risk	Rs119103253(A;A)
Alt	Rs119103253(A;A)
Reference	Rs119103253(G;G)
Significance	Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	PYGM
CLNDBN	Glycogen storage disease, type V
Reversed	1
HGVS	NC_000011.9:g.64518803C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002392.4,