DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B ×

Gene: DYSF ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs1553531682

DYSF

1.000

0.120

71528296

splice acceptor variant

A/C

snv

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2005

dbSNP:

rs1553537332

DYSF

1.000

0.120

71539239

splice donor variant

G/-

delins

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2006

dbSNP:

rs1553542142

DYSF

1.000

0.120

71551039

splice acceptor variant

A/G

snv

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2016

dbSNP:

rs398123768

DYSF

1.000

0.120

71539156

splice acceptor variant

G/A

snv

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2016

dbSNP:

rs778092738

DYSF

1.000

0.120

71611329

stop gained

C/T

snv

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2016

dbSNP:

rs786205084

DYSF

1.000

0.120

71668842

missense variant

G/A

snv

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2010

dbSNP:

rs863225019

DYSF

1.000

0.120

71526332

splice donor variant

-/GGACTTGCCGCAGAG

delins

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2010

dbSNP:

rs863225020

DYSF

0.925

0.120

71481896

frameshift variant

-/A

delins

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

1998

dbSNP:

rs886042379

DYSF

0.925

0.120

71503316

frameshift variant

A/-

del

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2016

dbSNP:

rs886043964

DYSF

1.000

0.120

71569818

splice acceptor variant

A/C

snv

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2015

dbSNP:

rs886044377

DYSF

1.000

0.120

71515752

splice donor variant

G/A

snv

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2016

dbSNP:

rs1131692158

DYSF

1.000

0.120

71669207

missense variant

G/A;C

snv

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

dbSNP:

rs1213965862

DYSF

1.000

0.120

71643963

splice acceptor variant

A/G

snv

1.4E-05

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

dbSNP:

rs121908956

DYSF

0.851

0.160

71564074

missense variant

C/A;G;T

snv

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.800

1.000

1998

2009

dbSNP:

rs121908957

DYSF

0.882

0.160

71481934

missense variant

TG/AT

mnv

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.800

1.000

1998

2009

dbSNP:

rs121908961

DYSF

1.000

0.120

71667376

missense variant

A/G

snv

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.800

1.000

1998

2009

dbSNP:

rs1456182703

DYSF

1.000

0.120

71539223

frameshift variant

T/-

del

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

dbSNP:

rs1553377764

DYSF

1.000

0.120

71602807

splice donor variant

T/A

snv

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

dbSNP:

rs1553381945

DYSF

1.000

0.120

71611256

frameshift variant

A/-

del

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

dbSNP:

rs1553408378

DYSF

1.000

0.120

71656205

frameshift variant

T/-

del

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

dbSNP:

rs1553412826

DYSF

1.000

0.120

71664440

splice donor variant

T/C

snv

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

dbSNP:

rs1553414413

DYSF

1.000

0.120

71667516

splice donor variant

G/A

snv

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

dbSNP:

rs1553416039

DYSF

0.925

0.120

71669612

frameshift variant

A/-

del

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

dbSNP:

rs1553422709

DYSF

1.000

0.120

71682607

stop gained

G/A

snv

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

dbSNP:

rs1553495983

DYSF

1.000

0.120

71454062

frameshift variant

-/CTAC

delins

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700