rs119103254

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

11

Position

64753931

Gene

PYGM

is a	snp
is	mentioned by
dbSNP	rs119103254
dbSNP (classic)	rs119103254
ClinGen	rs119103254
ebi	rs119103254
HLI	rs119103254
Exac	rs119103254
Gnomad	rs119103254
Varsome	rs119103254
LitVar	rs119103254
Map	rs119103254
PheGenI	rs119103254
Biobank	rs119103254
1000 genomes	rs119103254
hgdp	rs119103254
ensembl	rs119103254
geneview	rs119103254
scholar	rs119103254
google	rs119103254
pharmgkb	rs119103254
gwascentral	rs119103254
openSNP	rs119103254
23andMe	rs119103254
SNPshot	rs119103254
SNPdbe	rs119103254
MSV3d	rs119103254
GWAS Ctlg	rs119103254

Max Magnitude

5

OMIM	608455
Desc
Variant	0006
Related	also

ClinVar
Risk	Rs119103254(C;C)
Alt	Rs119103254(C;C)
Reference	Rs119103254(T;T)
Significance	Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	PYGM
CLNDBN	Glycogen storage disease, type V
Reversed	1
HGVS	NC_000011.9:g.64521403A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002394.4,