rs794727534

Orientation

plus

Stabilized

plus

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

Make rs794727534(A;A)

Make rs794727534(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

71574253

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs794727534
dbSNP (classic)	rs794727534
ClinGen	rs794727534
ebi	rs794727534
HLI	rs794727534
Exac	rs794727534
Gnomad	rs794727534
Varsome	rs794727534
LitVar	rs794727534
Map	rs794727534
PheGenI	rs794727534
Biobank	rs794727534
1000 genomes	rs794727534
hgdp	rs794727534
ensembl	rs794727534
geneview	rs794727534
scholar	rs794727534
google	rs794727534
pharmgkb	rs794727534
gwascentral	rs794727534
openSNP	rs794727534
23andMe	rs794727534
SNPshot	rs794727534
SNPdbe	rs794727534
MSV3d	rs794727534
GWAS Ctlg	rs794727534

Max Magnitude

0

ClinVar
Risk	rs794727534(A;A)
Alt	rs794727534(A;A)
Reference	Rs794727534(G;G)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1
Variation	info
Gene	DYSF
CLNDBN	Limb-girdle muscular dystrophy, type 2B Miyoshi muscular dystrophy 1
Reversed	0
HGVS	NC_000002.11:g.71801383G>A
CLNSRC
CLNACC	RCV000177464.1, RCV000177465.1,