rs202044973

Orientation

plus

Stabilized

plus

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

Make rs202044973(C;T)

Make rs202044973(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

71535282

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs202044973
dbSNP (classic)	rs202044973
ClinGen	rs202044973
ebi	rs202044973
HLI	rs202044973
Exac	rs202044973
Gnomad	rs202044973
Varsome	rs202044973
LitVar	rs202044973
Map	rs202044973
PheGenI	rs202044973
Biobank	rs202044973
1000 genomes	rs202044973
hgdp	rs202044973
ensembl	rs202044973
geneview	rs202044973
scholar	rs202044973
google	rs202044973
pharmgkb	rs202044973
gwascentral	rs202044973
openSNP	rs202044973
23andMe	rs202044973
SNPshot	rs202044973
SNPdbe	rs202044973
MSV3d	rs202044973
GWAS Ctlg	rs202044973

GMAF

0.0

Max Magnitude

0

ClinVar
Risk	rs202044973(A;A) rs202044973(T;T)
Alt	rs202044973(A;A) rs202044973(T;T)
Reference	Rs202044973(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.71762412C>A
CLNSRC	ClinVar Emory University
CLNACC	RCV000080232.3, RCV000174882.3, RCV000346693.2,