DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs104894398 ×

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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:

rs104894398

rs104894398

GJB2

0.776

0.280

13

20189443

stop gained

C/A;T

snv

1.3E-04; 4.0E-06

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

DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

0.700

1.000

1997

2012

dbSNP:

rs104894398

rs104894398

GJB2

0.776

0.280

13

20189443

stop gained

C/A;T

snv

1.3E-04; 4.0E-06

CUI:	C3887873
Disease:	Hearing Loss

Hearing Loss

0.700

dbSNP:

rs104894398

rs104894398

GJB2

0.776

0.280

13

20189443

stop gained

C/A;T

snv

1.3E-04; 4.0E-06

CUI:	C1835672
Disease:	Palmoplantar Keratoderma with Deafness

Palmoplantar Keratoderma with Deafness

0.700

dbSNP:

rs104894398

rs104894398

GJB2

0.776

0.280

13

20189443

stop gained

C/A;T

snv

1.3E-04; 4.0E-06

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

ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS

0.700

dbSNP:

rs104894398

rs104894398

GJB2

0.776

0.280

13

20189443

stop gained

C/A;T

snv

1.3E-04; 4.0E-06

CUI:	C0265336
Disease:	Senter syndrome

Senter syndrome

0.700

dbSNP:

rs104894398

rs104894398

GJB2

0.776

0.280

13

20189443

stop gained

C/A;T

snv

1.3E-04; 4.0E-06

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

Knuckle pads, leuconychia and sensorineural deafness

0.700

dbSNP:

rs104894398

rs104894398

GJB2

0.776

0.280

13

20189443

stop gained

C/A;T

snv

1.3E-04; 4.0E-06

CUI:	C1384666
Disease:	hearing impairment

hearing impairment

0.700

dbSNP:

rs104894398

rs104894398

GJB2

0.776

0.280

13

20189443

stop gained

C/A;T

snv

1.3E-04; 4.0E-06

CUI:	C1844678
Disease:	Progressive hearing loss stapes fixation

Progressive hearing loss stapes fixation

0.700

dbSNP:

rs104894398

rs104894398

GJB2

0.776

0.280

13

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:

rs104894398

rs104894398

GJB2

0.776

0.280

13

20189443

stop gained

C/A;T

snv

1.3E-04; 4.0E-06

CUI:	C0265964
Disease:	Mutilating keratoderma

Mutilating keratoderma

0.700