rs398123793

Orientation

plus

Stabilized

plus

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

Make rs398123793(G;T)

Make rs398123793(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

71668843

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs398123793
dbSNP (classic)	rs398123793
ClinGen	rs398123793
ebi	rs398123793
HLI	rs398123793
Exac	rs398123793
Gnomad	rs398123793
Varsome	rs398123793
LitVar	rs398123793
Map	rs398123793
PheGenI	rs398123793
Biobank	rs398123793
1000 genomes	rs398123793
hgdp	rs398123793
ensembl	rs398123793
geneview	rs398123793
scholar	rs398123793
google	rs398123793
pharmgkb	rs398123793
gwascentral	rs398123793
openSNP	rs398123793
23andMe	rs398123793
SNPshot	rs398123793
SNPdbe	rs398123793
MSV3d	rs398123793
GWAS Ctlg	rs398123793

Max Magnitude

0

ClinVar
Risk	rs398123793(T;T)
Alt	rs398123793(T;T)
Reference	Rs398123793(G;G)
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.71895973G>T
CLNSRC	ClinVar
CLNACC	RCV000080303.3, RCV000178661.3, RCV000350045.1,