rs119103257

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;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

64752071

Gene

PYGM

is a	snp
is	mentioned by
dbSNP	rs119103257
dbSNP (classic)	rs119103257
ClinGen	rs119103257
ebi	rs119103257
HLI	rs119103257
Exac	rs119103257
Gnomad	rs119103257
Varsome	rs119103257
LitVar	rs119103257
Map	rs119103257
PheGenI	rs119103257
Biobank	rs119103257
1000 genomes	rs119103257
hgdp	rs119103257
ensembl	rs119103257
geneview	rs119103257
scholar	rs119103257
google	rs119103257
pharmgkb	rs119103257
gwascentral	rs119103257
openSNP	rs119103257
23andMe	rs119103257
SNPshot	rs119103257
SNPdbe	rs119103257
MSV3d	rs119103257
GWAS Ctlg	rs119103257

Max Magnitude

5

PYGM gene, c.1621G>T, p.Glu541Ter or E541X

23andMe name: i5005807

OMIM	608455
Desc
Variant	0013
Related	also

ClinVar
Risk	rs119103257(A;A) Rs119103257(T;T)
Alt	rs119103257(A;A) Rs119103257(T;T)
Reference	Rs119103257(G;G)
Significance	Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	PYGM
CLNDBN	Glycogen storage disease, type V
Reversed	1
HGVS	NC_000011.9:g.64519543C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002400.4,