rs201592500

Orientation

plus

Stabilized

plus

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

Make rs201592500(G;T)

Make rs201592500(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

71669179

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs201592500
dbSNP (classic)	rs201592500
ClinGen	rs201592500
ebi	rs201592500
HLI	rs201592500
Exac	rs201592500
Gnomad	rs201592500
Varsome	rs201592500
LitVar	rs201592500
Map	rs201592500
PheGenI	rs201592500
Biobank	rs201592500
1000 genomes	rs201592500
hgdp	rs201592500
ensembl	rs201592500
geneview	rs201592500
scholar	rs201592500
google	rs201592500
pharmgkb	rs201592500
gwascentral	rs201592500
openSNP	rs201592500
23andMe	rs201592500
SNPshot	rs201592500
SNPdbe	rs201592500
MSV3d	rs201592500
GWAS Ctlg	rs201592500

Max Magnitude

0

ClinVar
Risk	rs201592500(A;A) rs201592500(T;T)
Alt	rs201592500(A;A) rs201592500(T;T)
Reference	Rs201592500(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.71896309G>T
CLNSRC	HGMD
CLNACC	RCV000080305.3, RCV000178687.1, RCV000262297.1,