Source: CLINVAR ×
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | Rod photoreceptor temporal properties in retinitis pigmentosa. | 21219898 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations. | 21094163 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F. | 17488458 | 2007 |
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|
T | 0.700 | CausalMutation | CLINVAR | Retinitis pigmentosa rhodopsin mutations L125R and A164V perturb critical interhelical interactions: new insights through compensatory mutations and crystal structure analysis. | 12871954 | 2003 |
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|
T | 0.700 | CausalMutation | CLINVAR | Structure and function in rhodopsin: packing of the helices in the transmembrane domain and folding to a tertiary structure in the intradiscal domain are coupled. | 9380676 | 1997 |
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|
T | 0.700 | CausalMutation | CLINVAR | Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa. | 7981701 | 1994 |
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|
T | 0.700 | CausalMutation | CLINVAR | Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. | 8088850 | 1994 |
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|
A | 0.700 | CausalMutation | CLINVAR |