rs121908956

Orientation

plus

Stabilized

plus

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

Make rs121908956(C;G)

Make rs121908956(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

71564074

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs121908956
dbSNP (classic)	rs121908956
ClinGen	rs121908956
ebi	rs121908956
HLI	rs121908956
Exac	rs121908956
Gnomad	rs121908956
Varsome	rs121908956
LitVar	rs121908956
Map	rs121908956
PheGenI	rs121908956
Biobank	rs121908956
1000 genomes	rs121908956
hgdp	rs121908956
ensembl	rs121908956
geneview	rs121908956
scholar	rs121908956
google	rs121908956
pharmgkb	rs121908956
gwascentral	rs121908956
openSNP	rs121908956
23andMe	rs121908956
SNPshot	rs121908956
SNPdbe	rs121908956
MSV3d	rs121908956
GWAS Ctlg	rs121908956

Max Magnitude

0

OMIM	603009
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121908956(G;G) rs121908956(T;T)
Alt	rs121908956(G;G) rs121908956(T;T)
Reference	Rs121908956(C;C)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1 not provided
Variation	info
Gene	DYSF
CLNDBN	Limb-girdle muscular dystrophy, type 2B Miyoshi muscular dystrophy 1 not provided
Reversed	0
HGVS	NC_000002.11:g.71791204C>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007055.5, RCV000007056.5, RCV000080252.3,