rs121908957

Orientation

plus

Stabilized

plus

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

Make rs121908957(AT;AT)

Make rs121908957(AT;TG)

Reference

GRCh38 38.1/141

Chromosome

2

Position

71481934

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs121908957
dbSNP (classic)	rs121908957
ClinGen	rs121908957
ebi	rs121908957
HLI	rs121908957
Exac	rs121908957
Gnomad	rs121908957
Varsome	rs121908957
LitVar	rs121908957
Map	rs121908957
PheGenI	rs121908957
Biobank	rs121908957
1000 genomes	rs121908957
hgdp	rs121908957
ensembl	rs121908957
geneview	rs121908957
scholar	rs121908957
google	rs121908957
pharmgkb	rs121908957
gwascentral	rs121908957
openSNP	rs121908957
23andMe	rs121908957
SNPshot	rs121908957
SNPdbe	rs121908957
MSV3d	rs121908957
GWAS Ctlg	rs121908957

Max Magnitude

0

OMIM	603009
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121908957(AT;AT)
Alt	rs121908957(AT;AT)
Reference	Rs121908957(TG;TG)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy Miyoshi myopathy
Variation	info
Gene	DYSF
CLNDBN	Limb-girdle muscular dystrophy, type 2B Miyoshi myopathy
Reversed	0
HGVS	NC_000002.11:g.71709064_71709065delTGinsAT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007058.5, RCV000170323.4,