rs121908958

Orientation

plus

Stabilized

plus

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

Make rs121908958(A;A)

Make rs121908958(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

71570704

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs121908958
dbSNP (classic)	rs121908958
ClinGen	rs121908958
ebi	rs121908958
HLI	rs121908958
Exac	rs121908958
Gnomad	rs121908958
Varsome	rs121908958
LitVar	rs121908958
Map	rs121908958
PheGenI	rs121908958
Biobank	rs121908958
1000 genomes	rs121908958
hgdp	rs121908958
ensembl	rs121908958
geneview	rs121908958
scholar	rs121908958
google	rs121908958
pharmgkb	rs121908958
gwascentral	rs121908958
openSNP	rs121908958
23andMe	rs121908958
SNPshot	rs121908958
SNPdbe	rs121908958
MSV3d	rs121908958
GWAS Ctlg	rs121908958

Merged from

Rs28939700

Max Magnitude

0

OMIM	603009
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121908958(A;A)
Alt	rs121908958(A;A)
Reference	Rs121908958(G;G)
Significance	Pathogenic
Disease	Miyoshi muscular dystrophy 1 not provided Limb-girdle muscular dystrophy
Variation	info
Gene	DYSF
CLNDBN	Miyoshi muscular dystrophy 1 not provided Limb-girdle muscular dystrophy, type 2B
Reversed	0
HGVS	NC_000002.11:g.71797834G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007060.4, RCV000080266.3, RCV000176936.2,