| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort. | 27582626 | 2016 |
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|
T | 0.700 | CausalMutation | CLINVAR | Genetic screening in patients with Retinoblastoma in Israel. | 25754945 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma. | 25928201 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma. | 26539030 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis. | 26396485 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients. | 24688104 | 2014 |
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|
T | 0.700 | CausalMutation | CLINVAR | Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations. | 24791139 | 2014 |
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|
T | 0.700 | CausalMutation | CLINVAR | Heritable retinoblastoma and accelerated aortic valve disease. | 23595191 | 2013 |
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|
T | 0.700 | CausalMutation | CLINVAR | Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis. | 22963398 | 2013 |
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|
T | 0.700 | CausalMutation | CLINVAR | Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma. | 7704558 | 1994 |