rs116987552

plus

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

64759751

Gene

PYGM

is a	snp
is	mentioned by
dbSNP	rs116987552
dbSNP (classic)	rs116987552
ClinGen	rs116987552
ebi	rs116987552
HLI	rs116987552
Exac	rs116987552
Gnomad	rs116987552
Varsome	rs116987552
LitVar	rs116987552
Map	rs116987552
PheGenI	rs116987552
Biobank	rs116987552
1000 genomes	rs116987552
hgdp	rs116987552
ensembl	rs116987552
geneview	rs116987552
scholar	rs116987552
google	rs116987552
pharmgkb	rs116987552
gwascentral	rs116987552
openSNP	rs116987552
23andMe	rs116987552
SNPshot	rs116987552
SNPdbe	rs116987552
MSV3d	rs116987552
GWAS Ctlg	rs116987552

GMAF

0.001377

Max Magnitude

5

aka c.148C>T, p.Arg50Ter, R50* and R50X; previously referred to as R49X

This (rare) mutation in the PYGM gene is generally considered to be the most frequent mutation leading to McArdle disease, a recessively inherited condition.

23andMe name: i5012656

OMIM	608455
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs116987552(A;A)
Alt	Rs116987552(A;A)
Reference	Rs116987552(G;G)
Significance	Pathogenic
Disease	Glycogen storage disease not provided
Variation	info
Gene	PYGM
CLNDBN	Glycogen storage disease, type V not provided
Reversed	0
HGVS	NC_000011.9:g.64527223G>A
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000002388.9, RCV000081306.5,