rs119103259

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

64751597

Gene

PYGM

is a	snp
is	mentioned by
dbSNP	rs119103259
dbSNP (classic)	rs119103259
ClinGen	rs119103259
ebi	rs119103259
HLI	rs119103259
Exac	rs119103259
Gnomad	rs119103259
Varsome	rs119103259
LitVar	rs119103259
Map	rs119103259
PheGenI	rs119103259
Biobank	rs119103259
1000 genomes	rs119103259
hgdp	rs119103259
ensembl	rs119103259
geneview	rs119103259
scholar	rs119103259
google	rs119103259
pharmgkb	rs119103259
gwascentral	rs119103259
openSNP	rs119103259
23andMe	rs119103259
SNPshot	rs119103259
SNPdbe	rs119103259
MSV3d	rs119103259
GWAS Ctlg	rs119103259

Max Magnitude

5

OMIM	608455
Desc
Variant	0016
Related	also

ClinVar
Risk	Rs119103259(A;A)
Alt	Rs119103259(A;A)
Reference	Rs119103259(G;G)
Significance	Other
Disease	Glycogen storage disease
Variation	info
Gene	PYGM
CLNDBN	Glycogen storage disease, type V
Reversed	1
HGVS	NC_000011.9:g.64519069C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002403.6,