rs121908954

Orientation

plus

Stabilized

plus

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

Make rs121908954(A;G)

Make rs121908954(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

71602794

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs121908954
dbSNP (classic)	rs121908954
ClinGen	rs121908954
ebi	rs121908954
HLI	rs121908954
Exac	rs121908954
Gnomad	rs121908954
Varsome	rs121908954
LitVar	rs121908954
Map	rs121908954
PheGenI	rs121908954
Biobank	rs121908954
1000 genomes	rs121908954
hgdp	rs121908954
ensembl	rs121908954
geneview	rs121908954
scholar	rs121908954
google	rs121908954
pharmgkb	rs121908954
gwascentral	rs121908954
openSNP	rs121908954
23andMe	rs121908954
SNPshot	rs121908954
SNPdbe	rs121908954
MSV3d	rs121908954
GWAS Ctlg	rs121908954

GMAF

0.002296

Max Magnitude

0

OMIM	603009
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121908954(G;G)
Alt	rs121908954(G;G)
Reference	Rs121908954(A;A)
Significance	Other
Disease	Miyoshi muscular dystrophy 1 Limb-girdle muscular dystrophy not specified
Variation	info
Gene	DYSF
CLNDBN	Miyoshi muscular dystrophy 1 Limb-girdle muscular dystrophy, type 2B not specified
Reversed	0
HGVS	NC_000002.11:g.71829924A>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007049.5, RCV000007050.5, RCV000153183.7,