rs398123799

Orientation

plus

Stabilized

plus

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

Make rs398123799(-;A)

Make rs398123799(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

71681033

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs398123799
dbSNP (classic)	rs398123799
ClinGen	rs398123799
ebi	rs398123799
HLI	rs398123799
Exac	rs398123799
Gnomad	rs398123799
Varsome	rs398123799
LitVar	rs398123799
Map	rs398123799
PheGenI	rs398123799
Biobank	rs398123799
1000 genomes	rs398123799
hgdp	rs398123799
ensembl	rs398123799
geneview	rs398123799
scholar	rs398123799
google	rs398123799
pharmgkb	rs398123799
gwascentral	rs398123799
openSNP	rs398123799
23andMe	rs398123799
SNPshot	rs398123799
SNPdbe	rs398123799
MSV3d	rs398123799
GWAS Ctlg	rs398123799

Max Magnitude

0

ClinVar
Risk	rs398123799(A;A)
Alt	rs398123799(A;A)
Reference	Rs398123799(-;-)
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.71908163dupA
CLNSRC	HGMD
CLNACC	RCV000080318.3, RCV000179122.4, RCV000374089.2,