rs727503912

Orientation

plus

Stabilized

plus

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

Make rs727503912(C;T)

Make rs727503912(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

71667441

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs727503912
dbSNP (classic)	rs727503912
ClinGen	rs727503912
ebi	rs727503912
HLI	rs727503912
Exac	rs727503912
Gnomad	rs727503912
Varsome	rs727503912
LitVar	rs727503912
Map	rs727503912
PheGenI	rs727503912
Biobank	rs727503912
1000 genomes	rs727503912
hgdp	rs727503912
ensembl	rs727503912
geneview	rs727503912
scholar	rs727503912
google	rs727503912
pharmgkb	rs727503912
gwascentral	rs727503912
openSNP	rs727503912
23andMe	rs727503912
SNPshot	rs727503912
SNPdbe	rs727503912
MSV3d	rs727503912
GWAS Ctlg	rs727503912

Max Magnitude

0

ClinVar
Risk	rs727503912(T;T)
Alt	rs727503912(T;T)
Reference	Rs727503912(C;C)
Significance	Pathogenic
Disease	not provided Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1
Variation	info
Gene	DYSF
CLNDBN	not provided Limb-girdle muscular dystrophy, type 2B Miyoshi muscular dystrophy 1
Reversed	0
HGVS	NC_000002.11:g.71894571C>T
CLNSRC
CLNACC	RCV000153184.2, RCV000178626.1, RCV000389032.1,