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:

rs370874727

DYSF

0.925

0.120

71589591

splice acceptor variant

A/G

snv

1.2E-05

2.1E-05

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2010

2014

dbSNP:

rs373585652

DYSF

0.925

0.120

71513868

stop gained

C/G;T

snv

8.0E-06; 8.0E-06

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2005

2010

dbSNP:

rs398123763

DYSF

0.851

0.120

71520905

splice donor variant

G/A

snv

2.1E-05

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2014

2016

dbSNP:

rs398123767

DYSF

1.000

0.120

71535305

frameshift variant

-/A

delins

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2005

2010

dbSNP:

rs398123770

DYSF

1.000

0.120

71549349

splice acceptor variant

G/A

snv

4.0E-06

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2010

2014

dbSNP:

rs398123782

DYSF

1.000

0.120

71511817

frameshift variant

T/-

del

1.3E-05

7.0E-06

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2010

2016

dbSNP:

rs398123797

DYSF

1.000

0.120

71679124

frameshift variant

CAGC/-

delins

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2010

2016

dbSNP:

rs766341386

DYSF

0.925

0.120

71590281

frameshift variant

TT/-;TTT

delins

2.4E-05

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2007

2009

dbSNP:

rs766936914

DYSF

1.000

0.120

71528368

frameshift variant

C/-

delins

4.0E-06

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2015

2016

dbSNP:

rs886042110

DYSF

1.000

0.120

71661900

intron variant

G/C;T

snv

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2014

2015

dbSNP:

rs886042827

DYSF

1.000

0.120

71590278

frameshift variant

CT/-

delins

7.0E-06

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2016

dbSNP:

rs1057516051

DYSF

1.000

0.120

71660587

frameshift variant

G/-

delins

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2016

dbSNP:

rs1057519132

DYSF

1.000

0.120

71664401

frameshift variant

T/-

delins

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2013

dbSNP:

rs1236367931

DYSF

1.000

0.120

71535283

frameshift variant

-/A

delins

7.0E-06

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2016

dbSNP:

rs139258703

DYSF

1.000

0.120

71539207

stop gained

C/A;G;T

snv

2.8E-05; 3.2E-05

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2006

dbSNP:

rs1553376558

DYSF

1.000

0.120

71600771

frameshift variant

T/-

delins

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2010

dbSNP:

rs1553415211

DYSF

1.000

0.120

71668823

frameshift variant

-/C

delins

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2016

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:

rs199543257

DYSF

0.925

0.120

71564196

stop gained

C/A;T

snv

2.0E-05

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2012

dbSNP:

rs201869739

DYSF

0.925

0.120

71520209

splice donor variant

G/A

snv

3.6E-05

1.4E-05

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2013

dbSNP:

rs202044973

DYSF

0.925

0.120

71535282

stop gained

C/A;T

snv

1.2E-05; 2.0E-05

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:

rs398123789

DYSF

0.925

0.120

71658995

stop gained

C/T

snv

2.0E-05

7.0E-06

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2016