rs141497053

Orientation

plus

Stabilized

plus

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

Make rs141497053(A;A)

Make rs141497053(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

71515660

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs141497053
dbSNP (classic)	rs141497053
ClinGen	rs141497053
ebi	rs141497053
HLI	rs141497053
Exac	rs141497053
Gnomad	rs141497053
Varsome	rs141497053
LitVar	rs141497053
Map	rs141497053
PheGenI	rs141497053
Biobank	rs141497053
1000 genomes	rs141497053
hgdp	rs141497053
ensembl	rs141497053
geneview	rs141497053
scholar	rs141497053
google	rs141497053
pharmgkb	rs141497053
gwascentral	rs141497053
openSNP	rs141497053
23andMe	rs141497053
SNPshot	rs141497053
SNPdbe	rs141497053
MSV3d	rs141497053
GWAS Ctlg	rs141497053

Max Magnitude

0

ClinVar
Risk	rs141497053(A;A)
Alt	rs141497053(A;A)
Reference	Rs141497053(G;G)
Significance	Probable-Pathogenic
Disease	Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1
Variation	info
Gene	DYSF
CLNDBN	Limb-girdle muscular dystrophy, type 2B Miyoshi muscular dystrophy 1
Reversed	0
HGVS	NC_000002.11:g.71742790G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000179859.1, RCV000313591.1,