DisGeNET - a database of gene-disease associations

Source: ALL

Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) ×

Gene: GJB2 ×

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:

rs104894396

GJB2

0.672

0.400

20189511

stop gained

C/T

snv

5.8E-04

1.1E-04

CUI:	C2675750
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

0.700

dbSNP:

rs104894397

GJB2

0.882

0.120

20189353

missense variant

A/G

snv

4.0E-05

1.1E-04

CUI:	C2675750
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

0.700

dbSNP:

rs104894398

GJB2

0.776

0.280

20189443

stop gained

C/A;T

snv

1.3E-04; 4.0E-06

CUI:	C2675750
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

0.700

dbSNP:

rs1057517491

GJB2

0.776

0.240

20189448

frameshift variant

C/-

delins

CUI:	C2675750
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

0.700

dbSNP:

rs1057517508

GJB2

0.925

0.120

20189068

frameshift variant

A/-

del

CUI:	C2675750
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

0.700

dbSNP:

rs1064797088

GJB2

0.925

0.120

20189446

missense variant

C/T

snv

CUI:	C2675750
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

0.700

dbSNP:

rs1064797089

GJB2

1.000

0.120

20189418

missense variant

G/T

snv

CUI:	C2675750
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

0.700

dbSNP:

rs1064797090

GJB2

1.000

0.120

20189410

missense variant

G/A;C

snv

CUI:	C2675750
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

0.700

dbSNP:

rs111033293

GJB2

0.763

0.280

20189581

start lost

T/A;C

snv

3.6E-05

4.2E-05

CUI:	C2675750
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

0.700

dbSNP:

rs111033294

GJB2

0.763

0.280

20188965

missense variant

T/C

snv

9.6E-05

1.8E-04

CUI:	C2675750
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

0.700

dbSNP:

rs111033299

GJB2

0.763

0.280

20189299

missense variant

C/T

snv

4.8E-05

7.7E-05

CUI:	C2675750
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

0.700

dbSNP:

rs1566528901

GJB2

1.000

0.120

20189455

inframe deletion

CCT/-

delins

CUI:	C2675750
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

0.700

dbSNP:

rs371024165

GJB2

0.763

0.400

20189488

missense variant

G/A;T

snv

3.2E-05; 8.0E-06

CUI:	C2675750
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

0.700

dbSNP:

rs72474224

GJB2

0.708

0.440

20189473

missense variant

C/A;T

snv

7.7E-03

CUI:	C2675750
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

0.700

dbSNP:

rs727503066

GJB2

0.776

0.280

20189203

missense variant

G/A;C

snv

CUI:	C2675750
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

0.700

dbSNP:

rs774518779

GJB2

0.776

0.280

20189076

missense variant

C/T

snv

8.0E-06

CUI:	C2675750
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

0.700

dbSNP:

rs80338940

GJB2

0.763

0.280

20192782

splice donor variant

C/T

snv

2.3E-04

CUI:	C2675750
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

0.700

dbSNP:

rs80338944

GJB2

0.763

0.280

20189351

stop gained

C/T

snv

1.4E-04

4.2E-05

CUI:	C2675750
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

0.700

dbSNP:

rs80338945

GJB2

0.695

0.440

20189313

missense variant

A/G

snv

6.4E-04

CUI:	C2675750
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

0.700

dbSNP:

rs80338948

GJB2

0.763

0.280

20189155

missense variant

G/A

snv

1.2E-04

2.0E-04

CUI:	C2675750
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

0.700

dbSNP:

rs80338949

GJB2

1.000

0.120

20189095

missense variant

T/C;G

snv

1.4E-04

CUI:	C2675750
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

0.700

dbSNP:

rs80338939

GJB2

0.732

0.280

20189547

frameshift variant

C/-;CC

delins

6.4E-03

CUI:	C2675750
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

0.700

1.000

1997

2007

dbSNP:

rs104894401

GJB2

0.851

0.120

20189154

missense variant

C/T

snv

CUI:	C2675750
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

0.800

1.000

1998

2015

dbSNP:

rs104894402

GJB2

0.882

0.200

20189359

missense variant

G/A;C

snv

CUI:	C2675750
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

0.800

1.000

1998

2009

dbSNP:

rs104894406

GJB2

0.925

0.200

20188977

missense variant

C/A

snv

CUI:	C2675750
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)

0.800

1.000

1998

2009