DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs104894396 ×

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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:	C1384666
Disease:	hearing impairment

hearing impairment

0.710

1.000

2019

dbSNP:

rs104894396

GJB2

0.672

0.400

20189511

stop gained

C/T

snv

5.8E-04

1.1E-04

CUI:	C2673759
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

0.700

1.000

1997

2015

dbSNP:

rs104894396

GJB2

0.672

0.400

20189511

stop gained

C/T

snv

5.8E-04

1.1E-04

CUI:	C4551485
Disease:	Clinodactyly

Clinodactyly

0.700

dbSNP:

rs104894396

GJB2

0.672

0.400

20189511

stop gained

C/T

snv

5.8E-04

1.1E-04

CUI:	C1263846
Disease:	Attention deficit hyperactivity disorder

Attention deficit hyperactivity disorder

0.700

dbSNP:

rs104894396

GJB2

0.672

0.400

20189511

stop gained

C/T

snv

5.8E-04

1.1E-04

CUI:	C0423318
Disease:	Heterochromia iridis

Heterochromia iridis

0.700

dbSNP:

rs104894396

GJB2

0.672

0.400

20189511

stop gained

C/T

snv

5.8E-04

1.1E-04

CUI:	C0454644
Disease:	Delayed speech and language development

Delayed speech and language development

0.700

dbSNP:

rs104894396

GJB2

0.672

0.400

20189511

stop gained

C/T

snv

5.8E-04

1.1E-04

CUI:	C0265964
Disease:	Mutilating keratoderma

Mutilating keratoderma

0.700

dbSNP:

rs104894396

GJB2

0.672

0.400

20189511

stop gained

C/T

snv

5.8E-04

1.1E-04

CUI:	C0431447
Disease:	Synophrys

Synophrys

0.700

dbSNP:

rs104894396

GJB2

0.672

0.400

20189511

stop gained

C/T

snv

5.8E-04

1.1E-04

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

dbSNP:

rs104894396

GJB2

0.672

0.400

20189511

stop gained

C/T

snv

5.8E-04

1.1E-04

CUI:	C0233794
Disease:	Memory impairment

Memory impairment

0.700

dbSNP:

rs104894396

GJB2

0.672

0.400

20189511

stop gained

C/T

snv

5.8E-04

1.1E-04

CUI:	C0221357
Disease:	Brachydactyly

Brachydactyly

0.700

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:

rs104894396

GJB2

0.672

0.400

20189511

stop gained

C/T

snv

5.8E-04

1.1E-04

CUI:	C1865234
Disease:	ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS

ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS

0.700

dbSNP:

rs104894396

GJB2

0.672

0.400

20189511

stop gained

C/T

snv

5.8E-04

1.1E-04

CUI:	C0423113
Disease:	Telecanthus

Telecanthus

0.700

dbSNP:

rs104894396

GJB2

0.672

0.400

20189511

stop gained

C/T

snv

5.8E-04

1.1E-04

CUI:	C1835672
Disease:	Palmoplantar Keratoderma with Deafness

Palmoplantar Keratoderma with Deafness

0.700

dbSNP:

rs104894396

GJB2

0.672

0.400

20189511

stop gained

C/T

snv

5.8E-04

1.1E-04

CUI:	C1844678
Disease:	Progressive hearing loss stapes fixation

Progressive hearing loss stapes fixation

0.700

dbSNP:

rs104894396

GJB2

0.672

0.400

20189511

stop gained

C/T

snv

5.8E-04

1.1E-04

CUI:	C0265336
Disease:	Senter syndrome

Senter syndrome

0.700

dbSNP:

rs104894396

GJB2

0.672

0.400

20189511

stop gained

C/T

snv

5.8E-04

1.1E-04

CUI:	C0026106
Disease:	Mild Mental Retardation

Mild Mental Retardation

0.700

dbSNP:

rs104894396

GJB2

0.672

0.400

20189511

stop gained

C/T

snv

5.8E-04

1.1E-04

CUI:	C2675235
Disease:	Deafness, Autosomal Recessive 1b

Deafness, Autosomal Recessive 1b

0.700

dbSNP:

rs104894396

GJB2

0.672

0.400

20189511

stop gained

C/T

snv

5.8E-04

1.1E-04

CUI:	C3887873
Disease:	Hearing Loss

Hearing Loss

0.700

dbSNP:

rs104894396

GJB2

0.672

0.400

20189511

stop gained

C/T

snv

5.8E-04

1.1E-04

CUI:	C0266004
Disease:	Knuckle pads, leuconychia and sensorineural deafness

Knuckle pads, leuconychia and sensorineural deafness

0.700

dbSNP:

rs104894396

GJB2

0.672

0.400

20189511

stop gained

C/T

snv

5.8E-04

1.1E-04

CUI:	C3711374
Disease:	Nonsyndromic Deafness

Nonsyndromic Deafness

0.020

1.000

2010

2011

dbSNP:

rs104894396

GJB2

0.672

0.400

20189511

stop gained

C/T

snv

5.8E-04

1.1E-04

CUI:	C1834055
Disease:	Underdeveloped nasal alae

Underdeveloped nasal alae

0.010

1.000

2015

dbSNP:

rs104894396

GJB2

0.672

0.400

20189511

stop gained

C/T

snv

5.8E-04

1.1E-04

CUI:	C0024636
Disease:	Malocclusion

Malocclusion

0.010

1.000

2015

dbSNP:

rs104894396

GJB2

0.672

0.400

20189511

stop gained

C/T

snv

5.8E-04

1.1E-04

CUI:	C3266898
Disease:	Waardenburg Syndrome

Waardenburg Syndrome

0.010

1.000

2015