rs398123763

Orientation

plus

Stabilized

plus

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

Make rs398123763(A;A)

Make rs398123763(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

71520905

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs398123763
dbSNP (classic)	rs398123763
ClinGen	rs398123763
ebi	rs398123763
HLI	rs398123763
Exac	rs398123763
Gnomad	rs398123763
Varsome	rs398123763
LitVar	rs398123763
Map	rs398123763
PheGenI	rs398123763
Biobank	rs398123763
1000 genomes	rs398123763
hgdp	rs398123763
ensembl	rs398123763
geneview	rs398123763
scholar	rs398123763
google	rs398123763
pharmgkb	rs398123763
gwascentral	rs398123763
openSNP	rs398123763
23andMe	rs398123763
SNPshot	rs398123763
SNPdbe	rs398123763
MSV3d	rs398123763
GWAS Ctlg	rs398123763

Max Magnitude

0

ClinVar
Risk	rs398123763(A;A)
Alt	rs398123763(A;A)
Reference	Rs398123763(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.71748035G>A
CLNSRC	ClinVar
CLNACC	RCV000080225.3, RCV000174082.3, RCV000358439.1,