rs794727343

Orientation

plus

Stabilized

plus

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

Make rs794727343(A;A)

Make rs794727343(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

71553832

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs794727343
dbSNP (classic)	rs794727343
ClinGen	rs794727343
ebi	rs794727343
HLI	rs794727343
Exac	rs794727343
Gnomad	rs794727343
Varsome	rs794727343
LitVar	rs794727343
Map	rs794727343
PheGenI	rs794727343
Biobank	rs794727343
1000 genomes	rs794727343
hgdp	rs794727343
ensembl	rs794727343
geneview	rs794727343
scholar	rs794727343
google	rs794727343
pharmgkb	rs794727343
gwascentral	rs794727343
openSNP	rs794727343
23andMe	rs794727343
SNPshot	rs794727343
SNPdbe	rs794727343
MSV3d	rs794727343
GWAS Ctlg	rs794727343

Max Magnitude

0

ClinVar
Risk	rs794727343(A;A)
Alt	rs794727343(A;A)
Reference	Rs794727343(G;G)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1 Myopathy
Variation	info
Gene	DYSF
CLNDBN	Limb-girdle muscular dystrophy, type 2B Miyoshi muscular dystrophy 1 Myopathy, distal, with anterior tibial onset
Reversed	0
HGVS	NC_000002.11:g.71780962G>A
CLNSRC
CLNACC	RCV000176198.1, RCV000176199.1, RCV000176200.1,