rs28937581

Orientation

plus

Stabilized

plus

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

Make rs28937581(G;T)

Make rs28937581(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

71570300

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs28937581
dbSNP (classic)	rs28937581
ClinGen	rs28937581
ebi	rs28937581
HLI	rs28937581
Exac	rs28937581
Gnomad	rs28937581
Varsome	rs28937581
LitVar	rs28937581
Map	rs28937581
PheGenI	rs28937581
Biobank	rs28937581
1000 genomes	rs28937581
hgdp	rs28937581
ensembl	rs28937581
geneview	rs28937581
scholar	rs28937581
google	rs28937581
pharmgkb	rs28937581
gwascentral	rs28937581
openSNP	rs28937581
23andMe	rs28937581
SNPshot	rs28937581
SNPdbe	rs28937581
MSV3d	rs28937581
GWAS Ctlg	rs28937581

Max Magnitude

0

OMIM	603009
Desc	MIYOSHI MYOPATHY
Variant	0010
Related	also

ClinVar
Risk	rs28937581(T;T)
Alt	rs28937581(T;T)
Reference	Rs28937581(G;G)
Significance	Pathogenic
Disease	Miyoshi muscular dystrophy 1 not provided Limb-girdle muscular dystrophy
Variation	info
Gene	DYSF
CLNDBN	Miyoshi muscular dystrophy 1 not provided Limb-girdle muscular dystrophy, type 2B
Reversed	0
HGVS	NC_000002.11:g.71797430G>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007059.5, RCV000080261.3, RCV000176869.1,