DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs142285818 ×

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:

rs142285818

rs142285818

RHO

0.807

0.120

3

129532727

missense variant

C/G;T

snv

9.7E-04

4.1E-04

CUI:	C0029128
Disease:	Optic Disk Drusen

Optic Disk Drusen

0.700

dbSNP:

rs142285818

rs142285818

RHO

0.807

0.120

3

129532727

missense variant

C/G;T

snv

9.7E-04

4.1E-04

CUI:	C1862475
Disease:	Abnormality of retinal pigmentation

Abnormality of retinal pigmentation

0.700

dbSNP:

rs142285818

rs142285818

RHO

0.807

0.120

3

129532727

missense variant

C/G;T

snv

9.7E-04

4.1E-04

CUI:	C4072872
Disease:	obsolete Rod-cone dystrophy

obsolete Rod-cone dystrophy

0.700

dbSNP:

rs142285818

rs142285818

RHO

0.807

0.120

3

129532727

missense variant

C/G;T

snv

9.7E-04

4.1E-04

CUI:	C4023678
Disease:	Monocular strabismus

Monocular strabismus

0.700

dbSNP:

rs142285818

rs142285818

RHO

0.807

0.120

3

129532727

missense variant

C/G;T

snv

9.7E-04

4.1E-04

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.700

dbSNP:

rs142285818

rs142285818

RHO

0.807

0.120

3

129532727

missense variant

C/G;T

snv

9.7E-04

4.1E-04

CUI:	C1839364
Disease:	Progressive visual loss

Progressive visual loss

0.700

dbSNP:

rs142285818

rs142285818

RHO

0.807

0.120

3

129532727

missense variant

C/G;T

snv

9.7E-04

4.1E-04

CUI:	C0240897
Disease:	Retinal exudates

Retinal exudates

0.700

dbSNP:

rs142285818

rs142285818

RHO

0.807

0.120

3

129532727

missense variant

C/G;T

snv

9.7E-04

4.1E-04

CUI:	C0154832
Disease:	Exudative retinopathy

Exudative retinopathy

0.700

dbSNP:

rs142285818

rs142285818

RHO

0.807

0.120

3

129532727

missense variant

C/G;T

snv

9.7E-04

4.1E-04

CUI:	C0035305
Disease:	Retinal Detachment

Retinal Detachment

0.700

dbSNP:

rs142285818

rs142285818

RHO

0.807

0.120

3

129532727

missense variant

C/G;T

snv

9.7E-04

4.1E-04

CUI:	C0086543
Disease:	Cataract

Cataract

0.700

dbSNP:

rs142285818

rs142285818

RHO

0.807

0.120

3

129532727

missense variant

C/G;T

snv

9.7E-04

4.1E-04

CUI:	C0456909
Disease:	Blindness

Blindness

0.700