rs398123789

Orientation

plus

Stabilized

plus

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

Make rs398123789(C;T)

Make rs398123789(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

71658995

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs398123789
dbSNP (classic)	rs398123789
ClinGen	rs398123789
ebi	rs398123789
HLI	rs398123789
Exac	rs398123789
Gnomad	rs398123789
Varsome	rs398123789
LitVar	rs398123789
Map	rs398123789
PheGenI	rs398123789
Biobank	rs398123789
1000 genomes	rs398123789
hgdp	rs398123789
ensembl	rs398123789
geneview	rs398123789
scholar	rs398123789
google	rs398123789
pharmgkb	rs398123789
gwascentral	rs398123789
openSNP	rs398123789
23andMe	rs398123789
SNPshot	rs398123789
SNPdbe	rs398123789
MSV3d	rs398123789
GWAS Ctlg	rs398123789

Max Magnitude

0

ClinVar
Risk	rs398123789(T;T)
Alt	rs398123789(T;T)
Reference	Rs398123789(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.71886125C>T
CLNSRC	HGMD
CLNACC	RCV000080296.3, RCV000178524.2, RCV000178525.2,