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:

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:

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:

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:

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:

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:

rs756118312

DYSF

1.000

0.120

71570616

frameshift variant

-/C

delins

8.0E-06; 4.0E-06

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

dbSNP:

rs1558783870

DYSF

1.000

0.120

71668810

frameshift variant

-/CC

delins

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

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:

rs786205082

DYSF

1.000

0.120

71664417

splice region variant

-/TCCCACAGACCTACTGTGTGTAC

delins

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

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:

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:

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:

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:

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:

rs756328339

DYSF

1.000

0.120

71570608

missense variant

A/G

snv

1.2E-05

1.4E-05

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2005

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:

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:

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:

rs747289205

DYSF

1.000

0.120

71561750

splice acceptor variant

A/G

snv

4.0E-06

7.0E-06

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2016

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:

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:

rs1259378167

DYSF

1.000

0.120

71453999

start lost

A/G

snv

4.0E-06

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

dbSNP:

rs1451269647

DYSF

1.000

0.120

71682528

splice acceptor variant

A/G

snv

4.0E-06

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

dbSNP:

rs1553522730

DYSF

1.000

0.120

71516987

splice acceptor variant

A/G

snv

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700