rs267606993

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

11

Position

64759898

Gene

PYGM

is a	snp
is	mentioned by
dbSNP	rs267606993
dbSNP (classic)	rs267606993
ClinGen	rs267606993
ebi	rs267606993
HLI	rs267606993
Exac	rs267606993
Gnomad	rs267606993
Varsome	rs267606993
LitVar	rs267606993
Map	rs267606993
PheGenI	rs267606993
Biobank	rs267606993
1000 genomes	rs267606993
hgdp	rs267606993
ensembl	rs267606993
geneview	rs267606993
scholar	rs267606993
google	rs267606993
pharmgkb	rs267606993
gwascentral	rs267606993
openSNP	rs267606993
23andMe	rs267606993
SNPshot	rs267606993
SNPdbe	rs267606993
MSV3d	rs267606993
GWAS Ctlg	rs267606993

Max Magnitude

5

PYGM gene, c.1A>C, p.Met1Leu or M1L

23andMe name for A>G variant (not the A>C variant): i5005806

ClinVar
Risk	Rs267606993(C;C) rs267606993(G;G)
Alt	Rs267606993(C;C) rs267606993(G;G)
Reference	Rs267606993(A;A)
Significance	Other
Disease	Glycogen storage disease
Variation	info
Gene	PYGM
CLNDBN	Glycogen storage disease, type V
Reversed	1
HGVS	NC_000011.9:g.64527370T>C; NC_000011.9:g.64527370T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002399.4, RCV000144425.4,