rs201869739

Orientation

plus

Stabilized

plus

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

Make rs201869739(A;A)

Make rs201869739(A;G)

Reference

GRCh38 38.1/142

Chromosome

2

Position

71520209

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs201869739
dbSNP (classic)	rs201869739
ClinGen	rs201869739
ebi	rs201869739
HLI	rs201869739
Exac	rs201869739
Gnomad	rs201869739
Varsome	rs201869739
LitVar	rs201869739
Map	rs201869739
PheGenI	rs201869739
Biobank	rs201869739
1000 genomes	rs201869739
hgdp	rs201869739
ensembl	rs201869739
geneview	rs201869739
scholar	rs201869739
google	rs201869739
pharmgkb	rs201869739
gwascentral	rs201869739
openSNP	rs201869739
23andMe	rs201869739
SNPshot	rs201869739
SNPdbe	rs201869739
MSV3d	rs201869739
GWAS Ctlg	rs201869739

Max Magnitude

0

ClinVar
Risk	rs201869739(A;A)
Alt	rs201869739(A;A)
Reference	Rs201869739(G;G)
Significance	Pathogenic
Disease	not provided Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1
Variation	info
Gene	DYSF
CLNDBN	not provided Limb-girdle muscular dystrophy, type 2B Miyoshi muscular dystrophy 1
Reversed	0
HGVS	NC_000002.11:g.71747339G>A
CLNSRC	HGMD
CLNACC	RCV000080335.3, RCV000173782.3, RCV000370838.1,