rs1057516724

Orientation

plus

Stabilized

plus

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

Make rs1057516724(-;T)

Make rs1057516724(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

71590285

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs1057516724
dbSNP (classic)	rs1057516724
ClinGen	rs1057516724
ebi	rs1057516724
HLI	rs1057516724
Exac	rs1057516724
Gnomad	rs1057516724
Varsome	rs1057516724
LitVar	rs1057516724
Map	rs1057516724
PheGenI	rs1057516724
Biobank	rs1057516724
1000 genomes	rs1057516724
hgdp	rs1057516724
ensembl	rs1057516724
geneview	rs1057516724
scholar	rs1057516724
google	rs1057516724
pharmgkb	rs1057516724
gwascentral	rs1057516724
openSNP	rs1057516724
23andMe	rs1057516724
SNPshot	rs1057516724
SNPdbe	rs1057516724
MSV3d	rs1057516724
GWAS Ctlg	rs1057516724

Max Magnitude

0

ClinVar
Risk	rs1057516724(T;T)
Alt	rs1057516724(T;T)
Reference	Rs1057516724(-;-)
Significance	Probable-Pathogenic
Disease	Limb-girdle muscular dystrophy
Variation	info
Gene	DYSF
CLNDBN	Limb-girdle muscular dystrophy, type 2B
Reversed	0
HGVS	NC_000002.11:g.71817415dupT
CLNSRC
CLNACC	RCV000410481.1,