rs398123770

Orientation

plus

Stabilized

plus

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

Make rs398123770(A;A)

Make rs398123770(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

71549349

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs398123770
dbSNP (classic)	rs398123770
ClinGen	rs398123770
ebi	rs398123770
HLI	rs398123770
Exac	rs398123770
Gnomad	rs398123770
Varsome	rs398123770
LitVar	rs398123770
Map	rs398123770
PheGenI	rs398123770
Biobank	rs398123770
1000 genomes	rs398123770
hgdp	rs398123770
ensembl	rs398123770
geneview	rs398123770
scholar	rs398123770
google	rs398123770
pharmgkb	rs398123770
gwascentral	rs398123770
openSNP	rs398123770
23andMe	rs398123770
SNPshot	rs398123770
SNPdbe	rs398123770
MSV3d	rs398123770
GWAS Ctlg	rs398123770

Max Magnitude

0

ClinVar
Risk	rs398123770(A;A)
Alt	rs398123770(A;A)
Reference	Rs398123770(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.71776479G>A
CLNSRC	HGMD
CLNACC	RCV000080237.3, RCV000175175.1, RCV000303885.1,