rs779987458

Orientation

plus

Stabilized

plus

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

Make rs779987458(A;A)

Make rs779987458(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

71665182

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs779987458
dbSNP (classic)	rs779987458
ClinGen	rs779987458
ebi	rs779987458
HLI	rs779987458
Exac	rs779987458
Gnomad	rs779987458
Varsome	rs779987458
LitVar	rs779987458
Map	rs779987458
PheGenI	rs779987458
Biobank	rs779987458
1000 genomes	rs779987458
hgdp	rs779987458
ensembl	rs779987458
geneview	rs779987458
scholar	rs779987458
google	rs779987458
pharmgkb	rs779987458
gwascentral	rs779987458
openSNP	rs779987458
23andMe	rs779987458
SNPshot	rs779987458
SNPdbe	rs779987458
MSV3d	rs779987458
GWAS Ctlg	rs779987458

Max Magnitude

0

ClinVar
Risk	rs779987458(A;A)
Alt	rs779987458(A;A)
Reference	Rs779987458(G;G)
Significance	Probable-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.71892312G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000198403.1,