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:

rs398123786

DYSF

0.925

0.120

71612667

frameshift variant

C/-;CC

delins

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2006

2010

dbSNP:

rs1057521141

DYSF

1.000

0.120

71679197

missense variant

C/T

snv

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.800

1.000

1998

2016

dbSNP:

rs1553522104

DYSF

1.000

0.120

71516181

frameshift variant

CT/-

delins

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2008

2016

dbSNP:

rs1553535902

DYSF

1.000

0.120

71535090

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

2007

2016

dbSNP:

rs398123781

DYSF

0.851

0.120

71590212

stop gained

TG/AA

mnv

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2004

2015

dbSNP:

rs398123799

DYSF

0.925

0.120

71681032

frameshift variant

-/A

delins

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2005

2011

dbSNP:

rs886042584

DYSF

1.000

0.120

71669126

missense variant

G/T

snv

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2010

2018

dbSNP:

rs1064794020

DYSF

0.925

0.120

71679173

stop gained

C/T

snv

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2010

2016

dbSNP:

rs1420930684

DYSF

1.000

0.120

71568170

splice acceptor variant

A/G

snv

7.0E-06

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2015

2016

dbSNP:

rs1474151297

DYSF

1.000

0.120

71611627

splice donor variant

G/C

snv

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2008

2009

dbSNP:

rs1553376691

DYSF

1.000

0.120

71600843

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

2009

2014

dbSNP:

rs1553422723

DYSF

1.000

0.120

71682608

stop gained

G/A

snv

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2015

2016

dbSNP:

rs1553521017

DYSF

1.000

0.120

71513784

stop gained

C/T

snv

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2009

2016

dbSNP:

rs1553522133

DYSF

1.000

0.120

71516210

frameshift variant

G/-

delins

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2015

2017

dbSNP:

rs1553522751

DYSF

1.000

0.120

71516996

missense variant

A/T

snv

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2015

2016

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:

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:

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:

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