rs398123790

Orientation

plus

Stabilized

plus

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

Make rs398123790(G;T)

Make rs398123790(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

71664275

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs398123790
dbSNP (classic)	rs398123790
ClinGen	rs398123790
ebi	rs398123790
HLI	rs398123790
Exac	rs398123790
Gnomad	rs398123790
Varsome	rs398123790
LitVar	rs398123790
Map	rs398123790
PheGenI	rs398123790
Biobank	rs398123790
1000 genomes	rs398123790
hgdp	rs398123790
ensembl	rs398123790
geneview	rs398123790
scholar	rs398123790
google	rs398123790
pharmgkb	rs398123790
gwascentral	rs398123790
openSNP	rs398123790
23andMe	rs398123790
SNPshot	rs398123790
SNPdbe	rs398123790
MSV3d	rs398123790
GWAS Ctlg	rs398123790

Max Magnitude

0

ClinVar
Risk	rs398123790(T;T)
Alt	rs398123790(T;T)
Reference	Rs398123790(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.71891405G>T
CLNSRC	ClinVar Emory University
CLNACC	RCV000080299.3, RCV000178574.1, RCV000260720.1,