rs119103252

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

11

Position

64752064

Gene

PYGM

is a	snp
is	mentioned by
dbSNP	rs119103252
dbSNP (classic)	rs119103252
ClinGen	rs119103252
ebi	rs119103252
HLI	rs119103252
Exac	rs119103252
Gnomad	rs119103252
Varsome	rs119103252
LitVar	rs119103252
Map	rs119103252
PheGenI	rs119103252
Biobank	rs119103252
1000 genomes	rs119103252
hgdp	rs119103252
ensembl	rs119103252
geneview	rs119103252
scholar	rs119103252
google	rs119103252
pharmgkb	rs119103252
gwascentral	rs119103252
openSNP	rs119103252
23andMe	rs119103252
SNPshot	rs119103252
SNPdbe	rs119103252
MSV3d	rs119103252
GWAS Ctlg	rs119103252

Max Magnitude

5

PYGM gene, c.1628A>C, p.Lys543Thr or K543T

23andMe name: i5005800

OMIM	608455
Desc
Variant	0003
Related	also

ClinVar
Risk	Rs119103252(C;C)
Alt	Rs119103252(C;C)
Reference	Rs119103252(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.64519536T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002390.6,