DisGeNET - a database of gene-disease associations

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H, C4310758

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:

rs140263599

rs140263599

GNB3

1

1.000

12

6843073

missense variant

C/T

snv

2.8E-05

0.800

1.000

2016

2016

dbSNP:

rs879253773

rs879253773

GNB3 ; CDCA3

3

0.882

0.080

12

6846892

stop gained

G/A

snv

0.700

dbSNP:

rs879253774

rs879253774

GNB3

1

1.000

12

6843042

inframe deletion

AGA/-

delins

0.700