rs398123764

Orientation

plus

Stabilized

plus

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

Make rs398123764(-;-)

Make rs398123764(-;AA)

Reference

GRCh38 38.1/141

Chromosome

2

Position

71480901

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs398123764
dbSNP (classic)	rs398123764
ClinGen	rs398123764
ebi	rs398123764
HLI	rs398123764
Exac	rs398123764
Gnomad	rs398123764
Varsome	rs398123764
LitVar	rs398123764
Map	rs398123764
PheGenI	rs398123764
Biobank	rs398123764
1000 genomes	rs398123764
hgdp	rs398123764
ensembl	rs398123764
geneview	rs398123764
scholar	rs398123764
google	rs398123764
pharmgkb	rs398123764
gwascentral	rs398123764
openSNP	rs398123764
23andMe	rs398123764
SNPshot	rs398123764
SNPdbe	rs398123764
MSV3d	rs398123764
GWAS Ctlg	rs398123764

Max Magnitude

0

ClinVar
Risk	rs398123764(-;-)
Alt	rs398123764(-;-)
Reference	Rs398123764(AA;AA)
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.71708031_71708032delAA
CLNSRC	HGMD
CLNACC	RCV000080226.3, RCV000175751.1, RCV000393401.1,