rs119103258

Orientation

minus

Stabilized

minus

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

Make rs119103258(C;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

64746796

Gene	PYGM, RASGRP2

is a	snp
is	mentioned by
dbSNP	rs119103258
dbSNP (classic)	rs119103258
ClinGen	rs119103258
ebi	rs119103258
HLI	rs119103258
Exac	rs119103258
Gnomad	rs119103258
Varsome	rs119103258
LitVar	rs119103258
Map	rs119103258
PheGenI	rs119103258
Biobank	rs119103258
1000 genomes	rs119103258
hgdp	rs119103258
ensembl	rs119103258
geneview	rs119103258
scholar	rs119103258
google	rs119103258
pharmgkb	rs119103258
gwascentral	rs119103258
openSNP	rs119103258
23andMe	rs119103258
SNPshot	rs119103258
SNPdbe	rs119103258
MSV3d	rs119103258
GWAS Ctlg	rs119103258

Max Magnitude

5

OMIM	608455
Desc
Variant	0015
Related	also

ClinVar
Risk	Rs119103258(A;A) rs119103258(C;C)
Alt	Rs119103258(A;A) rs119103258(C;C)
Reference	Rs119103258(T;T)
Significance	Pathogenic
Disease	Glycogen storage disease not provided
Variation	info
Gene	PYGM RASGRP2
CLNDBN	Glycogen storage disease, type V not provided
Reversed	1
HGVS	NC_000011.9:g.64514268A>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002402.5, RCV000081312.3,