DisGeNET - a database of gene-disease associations

CATARACT 17, MULTIPLE TYPES, C3888124

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:

rs1064793935

rs1064793935

CRYBA4 ; CRYBB1

1

1.000

22

26616149

frameshift variant

C/-

delins

0.700

dbSNP:

rs1569203234

rs1569203234

CRYBB1

1

1.000

22

26599664

frameshift variant

G/-

del

0.700

dbSNP:

rs74315488

rs74315488

CRYBB1

1

1.000

22

26599591

stop gained

C/A

snv

0.700