rs398124210

Orientation

minus

Stabilized

minus

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

Make rs398124210(-;-)

Reference

GRCh38 38.1/141

Chromosome

11

Position

64747274

Gene	PYGM, RASGRP2

is a	snp
is	mentioned by
dbSNP	rs398124210
dbSNP (classic)	rs398124210
ClinGen	rs398124210
ebi	rs398124210
HLI	rs398124210
Exac	rs398124210
Gnomad	rs398124210
Varsome	rs398124210
LitVar	rs398124210
Map	rs398124210
PheGenI	rs398124210
Biobank	rs398124210
1000 genomes	rs398124210
hgdp	rs398124210
ensembl	rs398124210
geneview	rs398124210
scholar	rs398124210
google	rs398124210
pharmgkb	rs398124210
gwascentral	rs398124210
openSNP	rs398124210
23andMe	rs398124210
SNPshot	rs398124210
SNPdbe	rs398124210
MSV3d	rs398124210
GWAS Ctlg	rs398124210

Max Magnitude

3

ClinVar
Risk	rs398124210(-;-)
Alt	rs398124210(-;-)
Reference	Rs398124210(A;A)
Significance	Pathogenic
Disease	not provided Glycogen storage disease
Variation	info
Gene	PYGM RASGRP2
CLNDBN	not provided Glycogen storage disease, type V
Reversed	1
HGVS	NC_000011.9:g.64514746delT
CLNSRC	HGMD
CLNACC	RCV000081311.3, RCV000175318.1,