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:

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:

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:

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:

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:

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:

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:

rs151317754

DYSF

1.000

0.120

71561945

splice donor variant

G/A

snv

4.0E-06

7.0E-06

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

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:

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:

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:

rs1553536007

DYSF

1.000

0.120

71535312

splice donor variant

G/A

snv

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

dbSNP:

rs1553541329

DYSF

1.000

0.120

71549390

frameshift variant

C/AA

delins

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

dbSNP:

rs1553555585

DYSF

0.925

0.120

71570335

splice donor variant

G/T

snv

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

dbSNP:

rs1558613592

DYSF

1.000

0.120

71611278

stop gained

C/T

snv

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

dbSNP:

rs1558708492

DYSF

1.000

0.120

71644064

splice donor variant

G/A

snv

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700

dbSNP:

rs1558771348

DYSF

0.925

0.120

71665186

frameshift variant

C/-

delins

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.700