rs398123776

Orientation

plus

Stabilized

plus

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

Make rs398123776(C;T)

Make rs398123776(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

71569878

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs398123776
dbSNP (classic)	rs398123776
ClinGen	rs398123776
ebi	rs398123776
HLI	rs398123776
Exac	rs398123776
Gnomad	rs398123776
Varsome	rs398123776
LitVar	rs398123776
Map	rs398123776
PheGenI	rs398123776
Biobank	rs398123776
1000 genomes	rs398123776
hgdp	rs398123776
ensembl	rs398123776
geneview	rs398123776
scholar	rs398123776
google	rs398123776
pharmgkb	rs398123776
gwascentral	rs398123776
openSNP	rs398123776
23andMe	rs398123776
SNPshot	rs398123776
SNPdbe	rs398123776
MSV3d	rs398123776
GWAS Ctlg	rs398123776

Max Magnitude

0

ClinVar
Risk	rs398123776(T;T)
Alt	rs398123776(T;T)
Reference	Rs398123776(C;C)
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.71797008C>T
CLNSRC	ClinVar Emory University
CLNACC	RCV000080259.3, RCV000176736.1, RCV000356683.1,