rs119103260

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;T)	3	Carrier of a McArdle disease mutation
(T;T)	0	common in clinvar

Make rs119103260(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

64751970

Gene

PYGM

is a	snp
is	mentioned by
dbSNP	rs119103260
dbSNP (classic)	rs119103260
ClinGen	rs119103260
ebi	rs119103260
HLI	rs119103260
Exac	rs119103260
Gnomad	rs119103260
Varsome	rs119103260
LitVar	rs119103260
Map	rs119103260
PheGenI	rs119103260
Biobank	rs119103260
1000 genomes	rs119103260
hgdp	rs119103260
ensembl	rs119103260
geneview	rs119103260
scholar	rs119103260
google	rs119103260
pharmgkb	rs119103260
gwascentral	rs119103260
openSNP	rs119103260
23andMe	rs119103260
SNPshot	rs119103260
SNPdbe	rs119103260
MSV3d	rs119103260
GWAS Ctlg	rs119103260

Max Magnitude

3

OMIM	608455
Desc
Variant	0017
Related	also

ClinVar
Risk	rs119103260(C;C) rs119103260(G;G)
Alt	rs119103260(C;C) rs119103260(G;G)
Reference	Rs119103260(T;T)
Significance	Other
Disease	Glycogen storage disease
Variation	info
Gene	PYGM
CLNDBN	Glycogen storage disease, type V
Reversed	1
HGVS	NC_000011.9:g.64519442A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002404.6,