rs727502869

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs727502869(C;T)

Make rs727502869(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

3

Position

149026850

Gene

GYG1

is a	snp
is	mentioned by
dbSNP	rs727502869
dbSNP (classic)	rs727502869
ClinGen	rs727502869
ebi	rs727502869
HLI	rs727502869
Exac	rs727502869
Gnomad	rs727502869
Varsome	rs727502869
LitVar	rs727502869
Map	rs727502869
PheGenI	rs727502869
Biobank	rs727502869
1000 genomes	rs727502869
hgdp	rs727502869
ensembl	rs727502869
geneview	rs727502869
scholar	rs727502869
google	rs727502869
pharmgkb	rs727502869
gwascentral	rs727502869
openSNP	rs727502869
23andMe	rs727502869
SNPshot	rs727502869
SNPdbe	rs727502869
MSV3d	rs727502869
GWAS Ctlg	rs727502869

Max Magnitude

0

ClinVar
Risk	rs727502869(T;T)
Alt	rs727502869(T;T)
Reference	Rs727502869(C;C)
Significance	Pathogenic
Disease	Polyglucosan body myopathy 2
Variation	info
Gene	GYG1
CLNDBN	Polyglucosan body myopathy 2
Reversed	0
HGVS	NC_000003.11:g.148744637C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000150099.4,