rs398123796

Orientation

plus

Stabilized

plus

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

Make rs398123796(-;-)

Make rs398123796(-;AG)

Reference

GRCh38 38.1/141

Chromosome

2

Position

71674227

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs398123796
dbSNP (classic)	rs398123796
ClinGen	rs398123796
ebi	rs398123796
HLI	rs398123796
Exac	rs398123796
Gnomad	rs398123796
Varsome	rs398123796
LitVar	rs398123796
Map	rs398123796
PheGenI	rs398123796
Biobank	rs398123796
1000 genomes	rs398123796
hgdp	rs398123796
ensembl	rs398123796
geneview	rs398123796
scholar	rs398123796
google	rs398123796
pharmgkb	rs398123796
gwascentral	rs398123796
openSNP	rs398123796
23andMe	rs398123796
SNPshot	rs398123796
SNPdbe	rs398123796
MSV3d	rs398123796
GWAS Ctlg	rs398123796

Max Magnitude

0

ClinVar
Risk	rs398123796(-;-) rs398123796(GA;GA)
Alt	rs398123796(-;-) rs398123796(GA;GA)
Reference	Rs398123796(AG;AG)
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.71901357_71901358delAG
CLNSRC	HGMD
CLNACC	RCV000080310.3, RCV000179090.3, RCV000305675.2,