rs140108514

Orientation

plus

Stabilized

plus

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

Make rs140108514(A;A)

Make rs140108514(A;G)

Reference

GRCh38 38.1/142

Chromosome

2

Position

71568083

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs140108514
dbSNP (classic)	rs140108514
ClinGen	rs140108514
ebi	rs140108514
HLI	rs140108514
Exac	rs140108514
Gnomad	rs140108514
Varsome	rs140108514
LitVar	rs140108514
Map	rs140108514
PheGenI	rs140108514
Biobank	rs140108514
1000 genomes	rs140108514
hgdp	rs140108514
ensembl	rs140108514
geneview	rs140108514
scholar	rs140108514
google	rs140108514
pharmgkb	rs140108514
gwascentral	rs140108514
openSNP	rs140108514
23andMe	rs140108514
SNPshot	rs140108514
SNPdbe	rs140108514
MSV3d	rs140108514
GWAS Ctlg	rs140108514

Max Magnitude

0

ClinVar
Risk	rs140108514(A;A)
Alt	rs140108514(A;A)
Reference	Rs140108514(G;G)
Significance	Other
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.71795213G>A
CLNSRC	HGMD
CLNACC	RCV000080255.4, RCV000176550.5, RCV000200599.1, RCV000229450.1, RCV000233433.2,