| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
AAGATC | 0.700 | CausalMutation | CLINVAR | Molecular diagnostic experience of whole-exome sequencing in adult patients. | 26633545 | 2016 | ||||||
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|
|
G | 0.700 | GeneticVariation | CLINVAR | Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes. | 26200704 | 2015 | ||||||
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|
|
C | 0.700 | GeneticVariation | CLINVAR | Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature. | 25118028 | 2015 | ||||||
|
|
|
C | 0.700 | GeneticVariation | CLINVAR | Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature. | 25118028 | 2015 | ||||||
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|
G | 0.700 | CausalMutation | CLINVAR | DIAMUND: direct comparison of genomes to detect mutations. | 24375697 | 2014 | ||||||
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|
C | 0.700 | GeneticVariation | CLINVAR | Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. | 20673863 | 2010 | ||||||
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|
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C | 0.700 | GeneticVariation | CLINVAR | Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. | 20673863 | 2010 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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TC | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR |