rs758944159

Orientation

plus

Stabilized

plus

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

Make rs758944159(C;C)

Make rs758944159(C;T)

Reference

GRCh38.p7 38.3/149

Chromosome

2

Position

71590212

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs758944159
dbSNP (classic)	rs758944159
ClinGen	rs758944159
ebi	rs758944159
HLI	rs758944159
Exac	rs758944159
Gnomad	rs758944159
Varsome	rs758944159
LitVar	rs758944159
Map	rs758944159
PheGenI	rs758944159
Biobank	rs758944159
1000 genomes	rs758944159
hgdp	rs758944159
ensembl	rs758944159
geneview	rs758944159
scholar	rs758944159
google	rs758944159
pharmgkb	rs758944159
gwascentral	rs758944159
openSNP	rs758944159
23andMe	rs758944159
SNPshot	rs758944159
SNPdbe	rs758944159
MSV3d	rs758944159
GWAS Ctlg	rs758944159

Max Magnitude

0

ClinVar
Risk	rs758944159(A;A) rs758944159(C;C)
Alt	rs758944159(A;A) rs758944159(C;C)
Reference	Rs758944159(T;T)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy DYSF-Related Disorders
Variation	info
Gene	DYSF
CLNDBN	Limb-girdle muscular dystrophy, type 2B DYSF-Related Disorders
Reversed	0
HGVS	NC_000002.11:g.71817342T>A
CLNSRC	Illumina
CLNACC	RCV000385716.1, RCV000407800.1,