rs398123800

Orientation

plus

Stabilized

plus

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

Make rs398123800(C;C)

Make rs398123800(C;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

71513922

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs398123800
dbSNP (classic)	rs398123800
ClinGen	rs398123800
ebi	rs398123800
HLI	rs398123800
Exac	rs398123800
Gnomad	rs398123800
Varsome	rs398123800
LitVar	rs398123800
Map	rs398123800
PheGenI	rs398123800
Biobank	rs398123800
1000 genomes	rs398123800
hgdp	rs398123800
ensembl	rs398123800
geneview	rs398123800
scholar	rs398123800
google	rs398123800
pharmgkb	rs398123800
gwascentral	rs398123800
openSNP	rs398123800
23andMe	rs398123800
SNPshot	rs398123800
SNPdbe	rs398123800
MSV3d	rs398123800
GWAS Ctlg	rs398123800

Max Magnitude

0

ClinVar
Risk	rs398123800(C;C)
Alt	rs398123800(C;C)
Reference	Rs398123800(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.71741052G>C
CLNSRC	HGMD
CLNACC	RCV000080323.3, RCV000179423.1, RCV000368722.1,