DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Retinal Dystrophies ×

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:

rs121918244

rs121918244

IQCB1

0.882

0.200

3

121781772

stop gained

G/A

snv

6.8E-05

1.1E-04

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.700

1.000

2005

2005

dbSNP:

rs1189889920

rs1189889920

IQCB1

3

121790208

stop gained

G/A

snv

7.0E-06

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.700

dbSNP:

rs1553711564

rs1553711564

IQCB1

3

121788283

splice donor variant

C/T

snv

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.700

dbSNP:

rs767295178

rs767295178

IQCB1

3

121770503

frameshift variant

-/TGCCACA

delins

2.4E-05

7.0E-06

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.700