DisGeNET - a database of gene-disease associations

CONE-ROD DYSTROPHY 20, C4014856

Source: ALL

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

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs76216585

rs76216585

POC1B

9

0.807

0.160

12

89492071

stop gained

C/A;G;T

snv

8.5E-06; 2.7E-04

0.800

1.000

2014

2014

dbSNP:

rs587777693

rs587777693

POC1B

1

1.000

12

89497242

inframe deletion

TGC/-

delins

8.0E-06

0.700

dbSNP:

rs587777694

rs587777694

POC1B

1

1.000

12

89470360

splice donor variant

C/A

snv

2.6E-05

6.3E-05

0.700