rs398123780

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(GT;GT)	0	common in clinvar
(I;I)	0	common genotype
(TG;TG)	0	common in clinvar

Make rs398123780(-;-)

Make rs398123780(-;GT)

Reference

GRCh38 38.1/141

Chromosome

2

Position

71574350

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs398123780
dbSNP (classic)	rs398123780
ClinGen	rs398123780
ebi	rs398123780
HLI	rs398123780
Exac	rs398123780
Gnomad	rs398123780
Varsome	rs398123780
LitVar	rs398123780
Map	rs398123780
PheGenI	rs398123780
Biobank	rs398123780
1000 genomes	rs398123780
hgdp	rs398123780
ensembl	rs398123780
geneview	rs398123780
scholar	rs398123780
google	rs398123780
pharmgkb	rs398123780
gwascentral	rs398123780
openSNP	rs398123780
23andMe	rs398123780
SNPshot	rs398123780
SNPdbe	rs398123780
MSV3d	rs398123780
GWAS Ctlg	rs398123780

Max Magnitude

0

ClinVar
Risk	rs398123780(-;-)
Alt	rs398123780(-;-)
Reference	Rs398123780(TG;TG)
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.71801480_71801481delGT
CLNSRC	ClinVar
CLNACC	RCV000080269.3, RCV000177466.1, RCV000317624.1,