| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa. | 26574802 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | 25525159 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | 25525159 | 2015 |
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|
C | 0.700 | CausalMutation | CLINVAR | A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa. | 26574802 | 2015 |
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|
C | 0.700 | CausalMutation | CLINVAR | Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa. | 24651477 | 2014 |
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|
C | 0.700 | CausalMutation | CLINVAR | Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. | 25097241 | 2014 |
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|
C | 0.700 | CausalMutation | CLINVAR | Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. | 23591405 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa. | 20705278 | 2010 |
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|
A | 0.700 | CausalMutation | CLINVAR | Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa. | 20705279 | 2010 |
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|
C | 0.700 | CausalMutation | CLINVAR | Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa. | 20705279 | 2010 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR |