rs398123768

Orientation

plus

Stabilized

plus

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

Make rs398123768(A;A)

Make rs398123768(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

71539156

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs398123768
dbSNP (classic)	rs398123768
ClinGen	rs398123768
ebi	rs398123768
HLI	rs398123768
Exac	rs398123768
Gnomad	rs398123768
Varsome	rs398123768
LitVar	rs398123768
Map	rs398123768
PheGenI	rs398123768
Biobank	rs398123768
1000 genomes	rs398123768
hgdp	rs398123768
ensembl	rs398123768
geneview	rs398123768
scholar	rs398123768
google	rs398123768
pharmgkb	rs398123768
gwascentral	rs398123768
openSNP	rs398123768
23andMe	rs398123768
SNPshot	rs398123768
SNPdbe	rs398123768
MSV3d	rs398123768
GWAS Ctlg	rs398123768

Max Magnitude

0

ClinVar
Risk	rs398123768(A;A)
Alt	rs398123768(A;A)
Reference	Rs398123768(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.71766286G>A
CLNSRC	ClinVar
CLNACC	RCV000080235.3, RCV000175043.1, RCV000275267.1,