rs121908963

Orientation

plus

Stabilized

plus

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

Make rs121908963(A;A)

Make rs121908963(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

71517028

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs121908963
dbSNP (classic)	rs121908963
ClinGen	rs121908963
ebi	rs121908963
HLI	rs121908963
Exac	rs121908963
Gnomad	rs121908963
Varsome	rs121908963
LitVar	rs121908963
Map	rs121908963
PheGenI	rs121908963
Biobank	rs121908963
1000 genomes	rs121908963
hgdp	rs121908963
ensembl	rs121908963
geneview	rs121908963
scholar	rs121908963
google	rs121908963
pharmgkb	rs121908963
gwascentral	rs121908963
openSNP	rs121908963
23andMe	rs121908963
SNPshot	rs121908963
SNPdbe	rs121908963
MSV3d	rs121908963
GWAS Ctlg	rs121908963

Merged from

Rs121908964

Max Magnitude

0

OMIM	603009
Desc
Variant	0017
Related	also

ClinVar
Risk	rs121908963(A;A) rs121908963(C;C) rs121908963(T;T)
Alt	rs121908963(A;A) rs121908963(C;C) rs121908963(T;T)
Reference	Rs121908963(G;G)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1
Variation	info
Gene	DYSF
CLNDBN	Limb-girdle muscular dystrophy, type 2B Miyoshi muscular dystrophy 1
Reversed	0
HGVS	NC_000002.11:g.71744158G>A; NC_000002.11:g.71744158G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007068.4, RCV000007069.5,