| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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|
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0.800 | GeneticVariation | UNIPROT | ||||||||||
|
|
|
A | 0.800 | CausalMutation | CLINVAR | |||||||||
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|
A | 0.800 | GeneticVariation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.800 | CausalMutation | CLINVAR | |||||||||
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|
T | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
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|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
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|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
TTTCTCATCA | 0.700 | CausalMutation | CLINVAR | |||||||||
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CTTCTAG | 0.700 | CausalMutation | CLINVAR | |||||||||
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CTTCTAG | 0.700 | CausalMutation | CLINVAR | |||||||||
|
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
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|
A | 0.700 | GeneticVariation | CLINVAR | A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. | 26938784 | 2016 | ||||||
|
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|
A | 0.700 | GeneticVariation | CLINVAR | A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. | 26938784 | 2016 | ||||||
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|
|
0.800 | GeneticVariation | UNIPROT | An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias. | 25348816 | 2015 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias. | 25348816 | 2015 |