| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature. | 24664492 | 2014 |
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|
0.800 | GeneticVariation | UNIPROT | Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature. | 24664492 | 2014 |
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|
0.800 | GeneticVariation | UNIPROT | "A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant ""cerulean cataract"" in an Indian family." | 16470690 | 2006 |
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|
0.800 | GeneticVariation | UNIPROT | "A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant ""cerulean cataract"" in an Indian family." | 16470690 | 2006 |
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|
0.800 | GeneticVariation | UNIPROT | Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. | 11772997 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. | 11772997 | 2002 |
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|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR |