rs398123767

Orientation

plus

Stabilized

plus

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

Make rs398123767(-;A)

Make rs398123767(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

71535306

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs398123767
dbSNP (classic)	rs398123767
ClinGen	rs398123767
ebi	rs398123767
HLI	rs398123767
Exac	rs398123767
Gnomad	rs398123767
Varsome	rs398123767
LitVar	rs398123767
Map	rs398123767
PheGenI	rs398123767
Biobank	rs398123767
1000 genomes	rs398123767
hgdp	rs398123767
ensembl	rs398123767
geneview	rs398123767
scholar	rs398123767
google	rs398123767
pharmgkb	rs398123767
gwascentral	rs398123767
openSNP	rs398123767
23andMe	rs398123767
SNPshot	rs398123767
SNPdbe	rs398123767
MSV3d	rs398123767
GWAS Ctlg	rs398123767

Max Magnitude

0

ClinVar
Risk	rs398123767(A;A)
Alt	rs398123767(A;A)
Reference	Rs398123767(-;-)
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.71762436dupA
CLNSRC	HGMD
CLNACC	RCV000080234.3, RCV000174883.2, RCV000354813.1,