DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Leber Congenital Amaurosis ×

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:

rs387907009

rs387907009

IQCB1

0.882

0.200

3

121790166

stop gained

C/A

snv

1.2E-05

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.700

1.000

2011

2011

dbSNP:

rs750962965

rs750962965

IQCB1

0.882

0.200

3

121808978

frameshift variant

AA/-

delins

1.0E-04

1.4E-04

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.700

1.000

2005

2005

dbSNP:

rs1553722736

rs1553722736

IQCB1

1.000

0.040

3

121828473

stop gained

A/C

snv

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.700

dbSNP:

rs201405662

rs201405662

IQCB1

1.000

0.040

3

121828519

stop gained

G/A;C

snv

3.6E-05; 8.0E-06

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.700