DisGeNET - a database of gene-disease associations

Retinoblastoma, C0035335

Variant: rs1131690882 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1131690882

RB1

0.700

CausalMutation

CLINVAR

Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene.

15884040

2005

dbSNP:

rs1131690882

RB1

0.700

CausalMutation

CLINVAR

Genotype-phenotype correlations in hereditary familial retinoblastoma.

17096365

2007

dbSNP:

rs1131690882

RB1

0.700

CausalMutation

CLINVAR

Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort.

27582626

2016

dbSNP:

rs1131690882

RB1

0.700

CausalMutation

CLINVAR

De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm.

28193182

2017