rs121908953

Orientation

plus

Stabilized

plus

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

Make rs121908953(C;T)

Make rs121908953(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

71553071

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs121908953
dbSNP (classic)	rs121908953
ClinGen	rs121908953
ebi	rs121908953
HLI	rs121908953
Exac	rs121908953
Gnomad	rs121908953
Varsome	rs121908953
LitVar	rs121908953
Map	rs121908953
PheGenI	rs121908953
Biobank	rs121908953
1000 genomes	rs121908953
hgdp	rs121908953
ensembl	rs121908953
geneview	rs121908953
scholar	rs121908953
google	rs121908953
pharmgkb	rs121908953
gwascentral	rs121908953
openSNP	rs121908953
23andMe	rs121908953
SNPshot	rs121908953
SNPdbe	rs121908953
MSV3d	rs121908953
GWAS Ctlg	rs121908953

Max Magnitude

0

OMIM	603009
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121908953(T;T)
Alt	rs121908953(T;T)
Reference	Rs121908953(C;C)
Significance	Pathogenic
Disease	Miyoshi muscular dystrophy 1 Limb-girdle muscular dystrophy
Variation	info
Gene	DYSF
CLNDBN	Miyoshi muscular dystrophy 1 Limb-girdle muscular dystrophy, type 2B
Reversed	0
HGVS	NC_000002.11:g.71780201C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007047.6, RCV000341253.2,