rs398124208

Orientation

minus

Stabilized

minus

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

Make rs398124208(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

64753556

Gene

PYGM

is a	snp
is	mentioned by
dbSNP	rs398124208
dbSNP (classic)	rs398124208
ClinGen	rs398124208
ebi	rs398124208
HLI	rs398124208
Exac	rs398124208
Gnomad	rs398124208
Varsome	rs398124208
LitVar	rs398124208
Map	rs398124208
PheGenI	rs398124208
Biobank	rs398124208
1000 genomes	rs398124208
hgdp	rs398124208
ensembl	rs398124208
geneview	rs398124208
scholar	rs398124208
google	rs398124208
pharmgkb	rs398124208
gwascentral	rs398124208
openSNP	rs398124208
23andMe	rs398124208
SNPshot	rs398124208
SNPdbe	rs398124208
MSV3d	rs398124208
GWAS Ctlg	rs398124208

Max Magnitude

3

ClinVar
Risk	rs398124208(A;A)
Alt	rs398124208(A;A)
Reference	Rs398124208(G;G)
Significance	Other
Disease	not provided Glycogen storage disease
Variation	info
Gene	PYGM
CLNDBN	not provided Glycogen storage disease, type V
Reversed	1
HGVS	NC_000011.9:g.64521028C>T
CLNSRC	HGMD
CLNACC	RCV000081304.3, RCV000169330.2,