DisGeNET - a database of gene-disease associations

rs122456134, CACNA1F

N. diseases: 2

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Night blindness, congenital stationary

CUI:	C0339535
Disease:	Night blindness, congenital stationary

52

0.925

0.080

X

49218511

stop gained

G/A

snv

0.700

1.000

1998

1998

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A

CUI:	C1848172
Disease:	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A

9

0.925

0.080

X

49218511

stop gained

G/A

snv

0.700