DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: LEBER CONGENITAL AMAUROSIS 3 (disorder) ×

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:

rs140287375

rs140287375

SPATA7

1.000

0.080

14

88416725

stop gained

C/G;T

snv

2.0E-05; 7.2E-05

CUI:	C1858677
Disease:	LEBER CONGENITAL AMAUROSIS 3 (disorder)

LEBER CONGENITAL AMAUROSIS 3 (disorder)

0.700

dbSNP:

rs374268850

rs374268850

SPATA7

1.000

0.080

14

88437553

stop gained

C/T

snv

CUI:	C1858677
Disease:	LEBER CONGENITAL AMAUROSIS 3 (disorder)

LEBER CONGENITAL AMAUROSIS 3 (disorder)

0.700

dbSNP:

rs386834241

rs386834241

SPATA7

0.925

0.080

14

88429394

frameshift variant

-/A

delins

CUI:	C1858677
Disease:	LEBER CONGENITAL AMAUROSIS 3 (disorder)

LEBER CONGENITAL AMAUROSIS 3 (disorder)

0.700

dbSNP:

rs386834243

rs386834243

SPATA7

0.925

0.080

14

88438016

frameshift variant

A/-

delins

CUI:	C1858677
Disease:	LEBER CONGENITAL AMAUROSIS 3 (disorder)

LEBER CONGENITAL AMAUROSIS 3 (disorder)

0.700

dbSNP:

rs75895925

rs75895925

SPATA7

0.925

0.080

14

88437565

stop gained

C/T

snv

4.8E-05

7.0E-06

CUI:	C1858677
Disease:	LEBER CONGENITAL AMAUROSIS 3 (disorder)

LEBER CONGENITAL AMAUROSIS 3 (disorder)

0.700

dbSNP:

rs80044281

rs80044281

SPATA7

0.925

0.080

14

88416794

stop gained

C/A;T

snv

4.0E-06; 3.2E-05

CUI:	C1858677
Disease:	LEBER CONGENITAL AMAUROSIS 3 (disorder)

LEBER CONGENITAL AMAUROSIS 3 (disorder)

0.700