Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. | 25356532 | 2015 |
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|
G | 0.700 | CausalMutation | CLINVAR | New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. | 25356532 | 2015 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. | 24265693 | 2013 |
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|
C | 0.700 | CausalMutation | CLINVAR | Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. | 23746546 | 2013 |
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|
G | 0.700 | CausalMutation | CLINVAR | Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. | 23746546 | 2013 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia. | 18521937 | 2008 |
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|
A | 0.700 | GeneticVariation | CLINVAR | An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy. | 18055820 | 2007 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. | 15137946 | 2004 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. | 10958761 | 2000 |
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|
G | 0.700 | GeneticVariation | CLINVAR | A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. | 9054934 | 1997 |
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|
GAAAA | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |