rs398123782

Orientation

plus

Stabilized

plus

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

Make rs398123782(-;-)

Make rs398123782(-;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

71511817

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs398123782
dbSNP (classic)	rs398123782
ClinGen	rs398123782
ebi	rs398123782
HLI	rs398123782
Exac	rs398123782
Gnomad	rs398123782
Varsome	rs398123782
LitVar	rs398123782
Map	rs398123782
PheGenI	rs398123782
Biobank	rs398123782
1000 genomes	rs398123782
hgdp	rs398123782
ensembl	rs398123782
geneview	rs398123782
scholar	rs398123782
google	rs398123782
pharmgkb	rs398123782
gwascentral	rs398123782
openSNP	rs398123782
23andMe	rs398123782
SNPshot	rs398123782
SNPdbe	rs398123782
MSV3d	rs398123782
GWAS Ctlg	rs398123782

Max Magnitude

0

ClinVar
Risk	rs398123782(-;-)
Alt	rs398123782(-;-)
Reference	Rs398123782(T;T)
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.71738947delT
CLNSRC	HGMD
CLNACC	RCV000080274.3, RCV000178878.2, RCV000275194.1,