DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs199679165 ×

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:

rs199679165

rs199679165

USH2A

0.827

0.200

1

216097196

stop gained

G/A

snv

1.6E-05

CUI:	C1848634
Disease:	USHER SYNDROME, TYPE IIA

USHER SYNDROME, TYPE IIA

0.700

1.000

2007

2011

dbSNP:

rs199679165

rs199679165

USH2A

0.827

0.200

1

216097196

stop gained

G/A

snv

1.6E-05

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

1.000

2007

2011

dbSNP:

rs199679165

rs199679165

USH2A

0.827

0.200

1

216097196

stop gained

G/A

snv

1.6E-05

CUI:	C1865866
Disease:	Congenital sensorineural hearing loss

Congenital sensorineural hearing loss

0.700

dbSNP:

rs199679165

rs199679165

USH2A

0.827

0.200

1

216097196

stop gained

G/A

snv

1.6E-05

CUI:	C0235095
Disease:	Visual field constriction

Visual field constriction

0.700

dbSNP:

rs199679165

rs199679165

USH2A

0.827

0.200

1

216097196

stop gained

G/A

snv

1.6E-05

CUI:	C4072872
Disease:	obsolete Rod-cone dystrophy

obsolete Rod-cone dystrophy

0.700

dbSNP:

rs199679165

rs199679165

USH2A

0.827

0.200

1

216097196

stop gained

G/A

snv

1.6E-05

CUI:	C0028077
Disease:	Nyctalopia

Nyctalopia

0.700