rs121908962

Orientation

plus

Stabilized

plus

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

Make rs121908962(A;A)

Make rs121908962(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

71551073

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs121908962
dbSNP (classic)	rs121908962
ClinGen	rs121908962
ebi	rs121908962
HLI	rs121908962
Exac	rs121908962
Gnomad	rs121908962
Varsome	rs121908962
LitVar	rs121908962
Map	rs121908962
PheGenI	rs121908962
Biobank	rs121908962
1000 genomes	rs121908962
hgdp	rs121908962
ensembl	rs121908962
geneview	rs121908962
scholar	rs121908962
google	rs121908962
pharmgkb	rs121908962
gwascentral	rs121908962
openSNP	rs121908962
23andMe	rs121908962
SNPshot	rs121908962
SNPdbe	rs121908962
MSV3d	rs121908962
GWAS Ctlg	rs121908962

Max Magnitude

0

OMIM	603009
Desc
Variant	0015
Related	also

ClinVar
Risk	rs121908962(A;A)
Alt	rs121908962(A;A)
Reference	Rs121908962(G;G)
Significance	Pathogenic
Disease	Miyoshi muscular dystrophy 1 not provided not specified
Variation	info
Gene	DYSF
CLNDBN	Miyoshi muscular dystrophy 1 not provided not specified
Reversed	0
HGVS	NC_000002.11:g.71778203G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007066.4, RCV000342783.1, RCV000348359.1,