rs767739769

Orientation

plus

Stabilized

plus

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

Make rs767739769(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

64755320

Gene

PYGM

is a	snp
is	mentioned by
dbSNP	rs767739769
dbSNP (classic)	rs767739769
ClinGen	rs767739769
ebi	rs767739769
HLI	rs767739769
Exac	rs767739769
Gnomad	rs767739769
Varsome	rs767739769
LitVar	rs767739769
Map	rs767739769
PheGenI	rs767739769
Biobank	rs767739769
1000 genomes	rs767739769
hgdp	rs767739769
ensembl	rs767739769
geneview	rs767739769
scholar	rs767739769
google	rs767739769
pharmgkb	rs767739769
gwascentral	rs767739769
openSNP	rs767739769
23andMe	rs767739769
SNPshot	rs767739769
SNPdbe	rs767739769
MSV3d	rs767739769
GWAS Ctlg	rs767739769

Max Magnitude

3

ClinVar
Risk	rs767739769(A;A)
Alt	rs767739769(A;A)
Reference	Rs767739769(G;G)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	PYGM
CLNDBN	Glycogen storage disease, type V
Reversed	0
HGVS	NC_000011.9:g.64522792G>A
CLNSRC
CLNACC	RCV000169167.1,