rs373585652

Orientation

plus

Stabilized

plus

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

Make rs373585652(C;T)

Make rs373585652(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

71513868

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs373585652
dbSNP (classic)	rs373585652
ClinGen	rs373585652
ebi	rs373585652
HLI	rs373585652
Exac	rs373585652
Gnomad	rs373585652
Varsome	rs373585652
LitVar	rs373585652
Map	rs373585652
PheGenI	rs373585652
Biobank	rs373585652
1000 genomes	rs373585652
hgdp	rs373585652
ensembl	rs373585652
geneview	rs373585652
scholar	rs373585652
google	rs373585652
pharmgkb	rs373585652
gwascentral	rs373585652
openSNP	rs373585652
23andMe	rs373585652
SNPshot	rs373585652
SNPdbe	rs373585652
MSV3d	rs373585652
GWAS Ctlg	rs373585652

Max Magnitude

0

ClinVar
Risk	rs373585652(G;G) rs373585652(T;T)
Alt	rs373585652(G;G) rs373585652(T;T)
Reference	Rs373585652(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.71740998C>T
CLNSRC	HGMD
CLNACC	RCV000080319.3, RCV000179424.1, RCV000306557.1,