rs119103256

Orientation

minus

Stabilized

minus

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

64750557

Gene

PYGM

is a	snp
is	mentioned by
dbSNP	rs119103256
dbSNP (classic)	rs119103256
ClinGen	rs119103256
ebi	rs119103256
HLI	rs119103256
Exac	rs119103256
Gnomad	rs119103256
Varsome	rs119103256
LitVar	rs119103256
Map	rs119103256
PheGenI	rs119103256
Biobank	rs119103256
1000 genomes	rs119103256
hgdp	rs119103256
ensembl	rs119103256
geneview	rs119103256
scholar	rs119103256
google	rs119103256
pharmgkb	rs119103256
gwascentral	rs119103256
openSNP	rs119103256
23andMe	rs119103256
SNPshot	rs119103256
SNPdbe	rs119103256
MSV3d	rs119103256
GWAS Ctlg	rs119103256

Max Magnitude

5

PYGM gene, c.1996C>G, p.Gln666Glu or Q666E

23andMe name: i5005805

OMIM	608455
Desc
Variant	0010
Related	also

ClinVar
Risk	Rs119103256(G;G)
Alt	Rs119103256(G;G)
Reference	Rs119103256(C;C)
Significance	Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	PYGM
CLNDBN	Glycogen storage disease, type V
Reversed	1
HGVS	NC_000011.9:g.64518029G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002393.4,