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:

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:

rs1459713589

DYSF

1.000

0.120

71454000

start lost

T/C

snv

4.0E-06

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:

rs886042641

DYSF

0.925

0.120

71481890

stop gained

G/A

snv

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

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:

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:

rs1553518087

DYSF

1.000

0.120

71503213

splice acceptor variant

G/A

snv

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

dbSNP:

rs794727636

DYSF

1.000

0.120

71503242

stop gained

C/T

snv

4.0E-06; 4.0E-06

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2009

dbSNP:

rs746315830

DYSF

1.000

0.120

71503308

stop gained

C/A;T

snv

4.0E-06

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2011

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:

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:

rs1278864604

DYSF

0.925

0.120

71511922

splice donor variant

G/A

snv

6.4E-06

7.0E-06

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

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:

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:

rs1553521119

DYSF

0.925

0.120

71513892

frameshift variant

C/-

del

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

dbSNP:

rs398123800

DYSF

1.000

0.120

71513922

splice donor variant

G/C

snv

4.0E-06

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2012

2016

dbSNP:

rs398123802

DYSF

1.000

0.120

71515714

missense variant

C/T

snv

1.2E-05

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

1.000

2011

2016

dbSNP:

rs1559053603

DYSF

1.000

0.120

71515738

missense variant

C/G

snv

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

dbSNP:

rs794727851

DYSF

1.000

0.120

71515749

stop gained

G/T

snv

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

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:

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:

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:

rs786200898

DYSF

1.000

0.120

71516242

splice donor variant

G/-

delins

5.6E-05

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

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