rs119103255

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

11

Position

64751966

Gene

PYGM

is a	snp
is	mentioned by
dbSNP	rs119103255
dbSNP (classic)	rs119103255
ClinGen	rs119103255
ebi	rs119103255
HLI	rs119103255
Exac	rs119103255
Gnomad	rs119103255
Varsome	rs119103255
LitVar	rs119103255
Map	rs119103255
PheGenI	rs119103255
Biobank	rs119103255
1000 genomes	rs119103255
hgdp	rs119103255
ensembl	rs119103255
geneview	rs119103255
scholar	rs119103255
google	rs119103255
pharmgkb	rs119103255
gwascentral	rs119103255
openSNP	rs119103255
23andMe	rs119103255
SNPshot	rs119103255
SNPdbe	rs119103255
MSV3d	rs119103255
GWAS Ctlg	rs119103255

Max Magnitude

5

PYGM gene, c.1726C>T, p.Arg576Ter or R576X

23andMe name: i5005804

OMIM	608455
Desc
Variant	0009
Related	also

ClinVar
Risk	Rs119103255(T;T)
Alt	Rs119103255(T;T)
Reference	Rs119103255(C;C)
Significance	Other
Disease	Glycogen storage disease
Variation	info
Gene	PYGM
CLNDBN	Glycogen storage disease, type V
Reversed	1
HGVS	NC_000011.9:g.64519438G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002397.7,