DisGeNET - a database of gene-disease associations

rs398123331, LOC112268118;RB1

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.

Neoplastic Syndromes, Hereditary

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

6387

1.000

0.080

13

48380062

stop gained

C/A;G;T

snv

7.6E-06

0.700

1.000

1995

2018

Retinoblastoma

CUI:	C0035335
Disease:	Retinoblastoma

193

1.000

0.080

13

48380062

stop gained

C/A;G;T

snv

7.6E-06

0.700

1.000

1995

2015